STATISITICAL DESIGN, MONITORING & COORD. OF VISION CLINICAL TRIALS & EPIDEMIOLOGY

本合同旨在为临床试验、流行病学研究及自然史研究的开发、设计、解读和评估争取外部资助。此外，本合同还将支持涉及眼科疾病和视觉障碍的结局研究以及部分临床前研究。工作重点应放在研究设计、数据收集、分析、 以及对这些研究产生的数据进行解读，同时支持并监督患者安全及随访工作。承包商还应按照工作说明书所述，针对指定的临床研究数据库、成本效益与经济分析、生活质量评估及结局研究，提供分析和数据管理支持。 这将包括但不限于以下领域：对联邦医疗保险（Medicare）及其他医疗保健数据库的分析；对现有国家眼科研究所（NEI）数据库的评估，例如：NEI内部研究集中数据库、眼病病例对照研究、糖尿病视网膜病变早期治疗研究、弗雷明汉眼科研究，以及内部艾滋病和葡萄膜炎数据库。 2012年正在进行的50项试验列表如下：更多信息请访问：http://clinicalstudies.info.nih.gov/cgi/protinstitute.cgi?NEI.0.html 标题：一项关于乌司替珠单抗（Stelara™）治疗活动性致盲性葡萄膜炎的试点研究 编号：12-EI-0168 背景： - 葡萄膜炎是一种可能导致视力丧失的眼部炎症。其治疗方法包括眼药水、药物，有时还需手术。对于部分患者，治疗可能无法预防视力丧失。一种名为T细胞的白细胞通常在葡萄膜炎的发病中起作用。在某些葡萄膜炎病例中，T细胞会攻击眼睛并引发炎症。 一种名为乌司替珠单抗（ustekinumab）的药物可减轻这些T细胞引起的炎症。研究人员希望了解乌司替珠单抗是否可用于治疗葡萄膜炎。 研究目标： - 评估乌司他丁单抗是否可用于治疗葡萄膜炎。 入组标准： - 年满18周岁且患有需治疗的活动性葡萄膜炎的受试者。 研究设计： - 将通过体格检查、眼科检查及病史询问对受试者进行筛选。 将采集血液和尿液样本。 - 在为期64周的研究期间，受试者需至少进行8次门诊随访。首次随访后，将在第2、4和8周进行随访，此后每12周随访一次。 - 受试者将在首次研究就诊时接受乌司替克单抗注射。随后将在第二次和第三次就诊时接受追加剂量，此后每12周给药一次，直至首次给药后1年（第52周）。 - 将通过频繁的血液检测和眼科检查对治疗情况进行监测。必要时可给予其他针对葡萄膜炎的标准治疗。 - 最后一次注射后3个月将进行最终随访。 标题：针对CNGB3型色盲受试者的NT-501眼内植入物（释放睫状神经营养因子[CNTF]）I/II期研究 编号：12-EI-0167 背景： - 色盲是一种遗传性疾病，因视网膜细胞功能异常而导致视力丧失。该病会导致视力下降、光敏感度降低以及色觉丧失。 目前尚无针对色盲的有效治疗方法。 - 目前已知有四种基因会导致色盲。其中，CNGB3基因约占色盲患者总数的50%。 - CNTF是一种人体内天然存在的化学物质，能促进神经细胞的存活和功能。研究表明，CNTF在动物实验中对治疗视网膜疾病有效，并能延缓视力丧失。 - 此外，研究人员还对250余名非色盲的视网膜疾病患者进行了CNTF研究。在这些研究中，通过简单的手术将CNTF植入物置入眼内。该植入物会在眼内靠近视网膜的位置释放CNTF。这些研究表明，CNTF植入物可能有助于改善某些眼部疾病的视力。 研究目标： - 评估CNTF植入物对CNGB3基因突变型色盲患者是否安全。 - 评估CNTF能否改善CNGB3基因突变型色盲患者的视力或色觉，以及是否能降低其对光线的敏感度。 入选标准： 如果您符合以下条件，您可能有资格参与本研究： - 年满18周岁。 - CNGB3基因突变检测结果为阳性，且其他色盲相关基因无突变。 - 至少有一只眼睛的视力为20/100或更差。 - 并非孕妇或哺乳期妇女。 研究设计： - 为确定您是否符合参与条件，我们将询问您的病史，并进行体格检查和眼科检查。同时将采集血液和尿液样本。 - 本研究要求您在3年内前往美国国家眼科研究所进行11次随访。 - 其中一次随访将进行植入手术。植入物仅植入单侧眼睛。 - 随访时间安排在植入手术后第1天，以及1周后、1个月后、3个月后、6个月后、1年后、1.5年后和3年后。这些随访将帮助我们评估该植入物对您眼睛的安全性和益处。 - 在第3年的随访中，您可以选择将CNTF植入物保留在眼内，也可以选择由我们将其取出。 标题：一项比较抗VEGF药物治疗糖尿病黄斑水肿（CADME）效果的II期随机研究 编号：12-EI-0134 背景： - 糖尿病黄斑水肿是糖尿病的一种常见眼部并发症。它会导致眼底视网膜血管渗漏，从而引起水肿。黄斑是视网膜的中央部分，对看清细微细节以及阅读、驾驶、 或缝纫等活动至关重要。黄斑水肿会导致视力下降，甚至可能导致失明。炎症可能是导致糖尿病性黄斑水肿的原因之一。此外，视网膜血管及细胞供血方面可能也存在问题。 - 体内一种名为VEGF的化学物质在血管形成过程中起着重要作用。降低VEGF水平可通过减少眼内异常渗漏的血管，从而有助于治疗糖尿病黄斑水肿。能够降低或阻断VEGF的药物包括雷珠单抗和贝伐单抗。研究表明，这两种药物均有助于治疗糖尿病黄斑水肿。 研究人员希望了解这两种药物中哪一种疗效更佳。 研究目的： - 比较拉尼比珠单抗和贝伐珠单抗注射液治疗糖尿病黄斑水肿的疗效。 入选标准： - 年满18周岁，且至少有一只眼睛患有糖尿病黄斑水肿的受试者。 研究设计： - 将通过体格检查和病史询问对受试者进行筛查。将进行全面的眼科检查，并采集血液和尿液样本。 - 将选择一只眼睛作为研究眼接受治疗。若双眼均受累，则两只眼睛均可纳入研究并接受不同的药物治疗。 - 研究的主要阶段将持续9个月。每次随访时，受试者将接受体格检查和眼科检查，并就自身健康状况及药物可能引起的任何副作用回答问题。 - 参与者将被分配到四个组别之一。其中两组将接受两轮雷珠单抗注射和一轮贝伐珠单抗注射；另外两组将接受两轮贝伐珠单抗注射和一轮雷珠单抗注射。一个疗程指每4周进行三次同一药物的眼部注射。注射 将在这些研究随访期间进行。各组之间的治疗序列顺序将有所不同。 - 9个月后，受试者将继续进行后续研究随访。若治疗效果良好，研究医生可能会延长随访间隔时间。研究注射可根据需要每4周进行一次，最长可持续3年。 - 如有需要，受试者可在研究眼接受激光治疗。 参与研究满1年后，他们还可能根据医嘱接受类固醇注射或其他针对黄斑水肿的治疗。 标题：评估非那雄胺治疗慢性中央浆液性脉络膜视网膜病变的II期、随机、安慰剂对照研究 编号：12-EI-0119 背景： - 中央浆液性脉络膜视网膜病变（CSC）是一种导致视网膜下积液的疾病。该病会影响位于视网膜中央的黄斑区，而黄斑区对实现清晰锐利的视力至关重要。 在许多情况下，CSC会自行消退，无需治疗。但在某些情况下，该病症不会自行消失，或在治疗后复发。这种情况被称为慢性CSC。 - 慢性CSC可能由一种称为雄激素的激素引起。非那雄胺是一种能够改变某些雄激素作用的药物。研究人员希望将非那雄胺与安慰剂进行比较，以确定其是否是治疗慢性CSC的一种安全有效的疗法。 研究目的： - 评估非那雄胺是否是治疗慢性CSC的安全且有效的疗法。 入选标准： - 年满18周岁，且单眼或双眼患有慢性CSC的受试者。 研究设计： - 将通过体格检查和病史询问对受试者进行筛选。将进行全面的眼科检查，并采集血液和尿液样本。 - 部分受试者可能接受光动力疗法（PDT），这是治疗CSC的标准疗法。PDT有助于减少眼内积液量。受试者在接受PDT后需等待3个月，方可开始参与非那雄胺研究。 - 受试者将被分为两组。 一组服用非那雄胺；另一组服用安慰剂。服用周期为3个月。 - 在按分配服用指定药物 （非那雄胺或安慰剂）后，所有受试者将有机会继续服用非那雄胺至少4年9个月。 - 受试者需定期参加研究随访。每次随访时，将进行身体检查和眼科检查，并提供血液及尿液样本。 标题：为“年龄相关眼病研究2”（AREDS2）基因库采集并提交血液和唾液样本 编号：12-EI-0085 背景： - “年龄相关性眼病研究2”（AREDS 2）旨在研究多种眼部疾病。研究参与者将提供血液和唾液样本。这些样本将用于眼部疾病的研究。 目标： - 为AREDS 2研究采集血液和唾液样本。 入选标准： - AREDS 2 研究参与者。 研究设计： - 参与者将提供血液和唾液样本。 - 样本将随同个人及医疗信息一并提交。这些信息将在 AREDS 2 研究流程中收集。 标题：一项关于结膜下西罗莫司治疗活动性自身免疫性非坏死性前巩膜炎的I期研究 编号：12-EI-0057 背景： - 自身免疫性巩膜炎是一种影响眼球外层白色部分的炎症性疾病。它与类风湿性关节炎等免疫系统疾病有关。 严重情况下可能导致失明。目前治疗巩膜炎的主要方法是使用糖皮质激素或免疫抑制剂，但这些药物可能引起全身性副作用。 - 西罗莫司是一种用于预防移植排斥反应的药物，可阻止免疫系统攻击机体。 研究人员希望尝试将西罗莫司注射入眼内，以治疗重度巩膜炎。 研究目标： - 评估西罗莫司是否是治疗自身免疫性巩膜炎的一种安全有效的疗法。 入选标准： - 年满18周岁，至少单侧眼患有自身免疫性巩膜炎且对标准治疗无反应的受试者。 研究设计： - 将通过病史询问、体格检查和眼科检查对受试者进行筛查。同时将采集血液和尿液样本。 - 将选择一只眼睛作为研究眼进行注射。 - 受试者将在4个月内进行6次研究随访（首次随访以及第2、4、8、12和16周）。首次随访时将进行注射。如果研究眼对治疗有反应，受试者可在第二次随访时对另一只眼进行注射。 - 若首次注射后仍存在炎症，或巩膜炎虽有所好转但随后复发，受试者可在第4周接受第二次注射。 - 将通过血液检测和眼科检查对治疗情况进行监测。 - 若治疗效果良好，受试者可能需要进行长达1年的研究随访和注射。 标题：美国国家眼科研究所（NEI）视网膜疾病院内生物样本库 编号：12-EI-0042 背景： - 为了解视网膜和眼部疾病，需要收集患有此类疾病及未患此类疾病人群的相关信息。研究人员希望对这些人群进行研究并长期随访。 他们还希望通过研究人体组织和血液来了解眼部疾病的本质。研究基因、细胞和组织可能有助于他们理解为何有些人会出现眼部问题而另一些人不会，或者为何有些人对治疗有反应而另一些人没有。研究人员希望收集生物样本和个人数据，以建立国家眼科研究所（NEI）的数据库。 研究目标： - 从患有和未患有眼部疾病的人群中收集健康信息以及血液和组织样本，用于科研研究。 入选标准： - 患有各类眼部疾病的任何年龄段人群。 - 无眼部疾病史的健康志愿者。 研究设计： - 参与者可来自美国国家眼科研究所的研究项目，也可由其他渠道推荐。 - 将通过体格检查和病史询问对参与者进行筛查。参与者还将接受全面的眼科检查。研究人员将询问家族病史，特别是眼部疾病史。 - 将采集血液样本。 根据需要，可能采集其他样本，如唾液、泪液、毛发、粪便和尿液。成年受试者还可提供皮肤样本。 - 作为眼科护理或治疗的一部分采集的眼部组织或体液，也可纳入数据库。 - 本研究不会提供任何治疗。 标题：局部应用干扰素γ-1b治疗经典型中心性浆液性脉络膜视网膜病变的I/II期试点研究 编号：12-EI-0013 背景： - 在眼科疾病“中心性浆液性脉络膜视网膜病变” （CSC）中，眼球后部视网膜下方会积聚液体。CSC可能自行消退，但在部分患者中会持续数月或复发。 CSC期间的积液可能导致视力丧失。药物干扰素γ-1b有助于减少视网膜内的积液。研究人员希望了解干扰素γ-1b是否有助于治疗CSC并预防由此引起的视力丧失。 研究目的： - 评估γ-1b干扰素眼药水是否是治疗CSC的安全有效方法。 入选标准： - 年满18周岁，且至少有一只眼睛患有CSC的受试者。 研究设计： - 研究人员将通过体格检查和病史询问对受试者进行筛选。此外，受试者还将接受眼科检查和血液检测。 - 本研究要求受试者在8周内至少前往美国国立卫生研究院眼科诊所就诊6次。每次就诊时间最长为4小时。 - 受试者将在首次就诊时获得研究用眼药水。 需连续2周每天使用3至4次，并须存放在阴凉处（如冰箱）。 - 受试者将在首次就诊后2天，以及开始使用研究用眼药水后第1、2、4和8周返回眼科诊所。 这些复诊将包括血液检查和眼科检查。 - 如果在前两周后中央视网膜静脉阻塞（CSC）未见好转，受试者将再使用两周眼药水。这一疗程将从首次研究就诊后第4周开始。 - 研究将在首次研究就诊后第8周的最后一次复诊时结束。 标题： 评估米诺环素作为小胶质细胞抑制剂治疗中央视网膜静脉阻塞的试点研究 编号： 11-EI-0264 背景： - 中央视网膜静脉阻塞（CRVO）是指眼底视网膜主要回流静脉发生阻塞。该病症可导致黄斑水肿，即视网膜肿胀，这是导致视力丧失的常见原因。研究表明，炎症可能是其病因之一。 米诺环素是一种可能有助于防止参与炎症反应的细胞被激活的药物。该药已获批作为抗生素使用，但尚未经过测试以确定其是否可用于治疗CRVO。 研究目的： - 评估米诺环素作为中央视网膜静脉阻塞治疗药物安全性和有效性。 研究设计： - 本研究为期2年，期间需至少25次前往国家眼科研究所就诊。参与者必须同意在研究期间保护自身免受阳光或人造紫外线的照射。 - 参与者将接受体格检查和病史筛查，并进行血液检测和眼科检查。 将选定一只眼睛作为研究眼进行药物治疗。 - 受试者将每天两次服用米诺环素或安慰剂片剂，两次服药间隔约12小时，持续2年。 - 受试者每月需复诊一次，进行血液检查和全面眼科检查，以评估治疗效果。 其他检查可能包括甲状腺功能检测和眼部影像学检查。研究参与者还可能接受药物注射，以阻止眼内新生血管的生长。 标题： 评估米诺环素作为小胶质细胞抑制剂治疗分支视网膜静脉阻塞的初步研究 编号： 11-EI-0263 背景： - 分支视网膜静脉阻塞（BRVO）是指将血液从眼底视网膜运出的细小静脉发生阻塞。这通常会导致黄斑水肿，即视网膜肿胀，这是导致视力丧失的常见原因之一。 研究表明，炎症可能是其病因之一。米诺环素是一种可能有助于防止参与炎症反应的细胞被激活的药物。该药虽已获批作为抗生素使用，但尚未经过测试以确定其是否可用于治疗BRVO。 研究目的： - 评估米诺环素作为支视网膜静脉阻塞治疗药物安全性及有效性。 研究设计： - 本研究为期2年，期间需至少25次前往美国国家眼科研究所就诊。参与者必须同意在研究期间避免接触阳光或人造紫外线。 - 将通过体格检查和病史询问对参与者进行筛选。此外，还将进行血液检测和眼科检查。将选定一只眼睛作为研究眼 接受药物治疗。 - 研究参与者将每天两次服用米诺环素或安慰剂，两次服药间隔约12小时，持续2年。 - 参与者需每月复诊，进行血液检测和全面眼科检查，以评估治疗效果。其他检查可能包括甲状腺功能检测和眼部影像学检查。研究参与者还可能接受药物注射，以抑制眼部新生血管的生长。 标题： 玻璃体腔内西罗莫司治疗与年龄相关性黄斑变性相关双侧地理性萎缩的评估试点研究 编号： 11-EI-0249 摘要： 背景： - 年龄相关性黄斑变性（AMD）是老年人失明的主要原因之一。它会影响黄斑——视网膜中负责清晰视觉的部分。AMD的一种晚期形式，即地理性萎缩（GA），部分可能由炎症引起。西罗莫司是一种有助于抑制炎症的药物。 研究人员希望了解西罗莫司能否帮助预防地理性萎缩患者的视力丧失。 研究目的： - 确定西罗莫司能否帮助预防地理性萎缩患者的视力丧失。 研究设计： - 本研究要求受试者在2年内至少前往美国国家眼科研究所15次。研究期间，受试者需每2个月进行一次随访，持续2年。 - 受试者将接受病史询问和体格检查。此外，还将进行血液和尿液检测以及眼科检查。将选择一只眼睛作为研究眼， 接受研究药物治疗。 - 受试者将在研究眼中接受西罗莫司注射。 1个月后将进行随访检查，包括眼科检查但不再注射。 - 参与者将在2年内定期复诊，接受眼科检查和药物注射。 - 最后一次注射后2个月，参与者将进行最终门诊随访，接受眼科检查。 标题： 从贝斯特病、晚发性视网膜变性（L-ORD）及年龄相关性黄斑变性（AMD）患者的体细胞中建立诱导多能干细胞（iPS）细胞系 编号： 11-EI-0245 摘要： 背景： - 贝斯特卵黄样营养不良（贝斯特病）、晚发性视网膜变性（L-ORD）和年龄相关性黄斑变性（AMD）均会影响视网膜——即眼球后部负责感光的部分。 医生无法安全地获取视网膜细胞来研究这些疾病。然而，从毛囊、皮肤和血液中采集的细胞可用于研究。研究人员希望从患有Best病、L-ORD和AMD的受试者身上采集细胞，并将这些细胞与健康志愿者的细胞进行比较。 研究目标： - 采集毛发、皮肤和血液样本，以研究三种影响视网膜的眼部疾病：贝斯特病、L-ORD和AMD。 研究设计： - 该研究需要受试者前往美国国家眼科研究所（National Eye Institute）进行一次就诊。 - 将对受试者进行医疗史和眼部疾病史筛查。 此外，还将进行眼科检查。 - 参与者需提供头发样本、血液样本及皮肤活检样本。头发将从后脑勺采集，皮肤样本则从上臂内侧采集。 标题： 评估右美沙芬作为小胶质细胞抑制剂治疗糖尿病性黄斑水肿的I/II期试点研究（MiDME2） 编号： 11-EI-0244 摘要： 背景： - 许多糖尿病患者会出现眼底黄斑水肿（肿胀）。黄斑水肿可能导致视力丧失。研究表明，炎症可能是导致肿胀的原因之一。 一种名为右美沙芬的药物可能有助于预防炎症和水肿。右美沙芬已被批准用作止咳药，但尚未研究其对糖尿病黄斑水肿的治疗效果。 研究目的： - 评估右美沙芬是否有助于治疗糖尿病黄斑水肿。 研究设计： - 本研究为期2年，参与者需至少前往国家眼科研究所门诊部就诊14次。 研究期间的前2个月每月进行一次随访，之后每两个月进行一次。每次随访约需2至4小时。 - 受试者将接受体格检查、病史询问、眼科检查和血液检测。将选择患有黄斑水肿的一只眼睛作为研究眼进行检测。 - 受试者需每日两次服用右美沙芬，两次服药间隔约12小时，持续2年。研究日记将用于记录服药日期、时间及药片数量。 - 研究开始后的前2个月，受试者每月需进行一次随访；此后，在研究剩余期间，每隔一个月进行一次随访。每次随访均包括眼科检查以及血液和尿液检测。 - 开始服用研究药物4个月后，如有必要，受试者可接受激光手术或其他针对黄斑水肿的治疗。 标题： 眼部移植物抗宿主病的自然病程 编号： 11-EI-0173 摘要： 背景： - 干细胞移植（SCT）用于治疗某些类型的癌症、血细胞疾病和免疫系统疾病。该疗法利用捐献者血液中的干细胞替代受者骨髓中的干细胞。 随后，受者的骨髓便能产生新的血细胞。其中一些参与免疫系统的新细胞与供者的细胞相似。有时，来自干细胞移植的免疫细胞会攻击受者的正常组织，包括眼睛。这种免疫攻击被称为移植物抗宿主病（GVHD）。 -眼部移植物抗宿主病（GVHD）的症状包括眼痛、眼部刺激、干眼和炎症。当病情严重且对治疗反应不佳时，眼部移植物抗宿主病还可能导致视力丧失。 研究目的： - 深入了解接受过干细胞移植的患者中眼部移植物抗宿主病（GVHD）的相关情况。 研究设计： - 本研究为期1年，期间需前往美国国家眼科研究所（National Eye Institute）进行6次随访。（在干细胞移植（SCT）前约1个月还有一次可选随访。）在条件允许的情况下，本研究的随访安排将尽可能与您正在参与的国家癌症研究所（NCI）或国家心肺血液研究所（NHLBI）研究方案的随访安排在同一天进行。 -每次随访时，参与者将接受体格检查并记录眼科病史。参与者将接受眼科检查以及泪液分泌能力测试。研究参与者的泪液还将被采集，以便在实验室进行分析。泪液采集过程无痛。如果在某些随访时移植团队尚未 。 标题： 使用局部干扰素γ治疗葡萄膜炎继发的黄斑水肿 编号： 11-EI-0167 摘要： 背景： - 葡萄膜炎是一种严重的眼部疾病，免疫系统会攻击眼睛，可能导致视力丧失。与葡萄膜炎相关的一个常见问题是黄斑水肿。这是视网膜中央部位的肿胀。 视网膜的这一部分对于获得清晰锐利的视力至关重要。这种肿胀可能导致视力进一步下降。 - 干扰素γ-1b是一种实验室合成的蛋白质，其作用类似于白细胞为对抗感染而产生的物质。它能改变免疫系统对眼内细胞的反应方式，可能有助于减轻眼底的肿胀。该药物曾作为注射剂用于治疗其他免疫性疾病，但除2010年在美国国立卫生研究院（NIH）进行的一项安全性试验外，尚未作为眼药水用于治疗葡萄膜炎，仅在2010年美国国立卫生研究院（NIH）进行过一项安全性试验。 研究目的： - 评估干扰素γ眼药水治疗葡萄膜炎所致黄斑水肿的有效性。 研究设计： - 本研究要求受试者在约2周内前往研究诊所就诊三次。 每次就诊将持续1至2小时。 - 受试者将接受体格检查、病史询问及全面眼科检查。其中一只眼睛将被指定为研究眼。 - 受试者需在研究眼中每天滴眼药水4次，持续1周。 - 在第二次研究就诊时（1周后），受试者将接受眼科检查和体格检查，并归还眼药水。 - 受试者将在第二次就诊1周后进行最后一次研究就诊，并接受最终眼科检查。 标题： 年龄相关性黄斑变性受试者暗适应能力的纵向研究 编号： 11-EI-0147 摘要： 背景： - 年龄相关性黄斑变性（AMD）是55岁以上人群视力丧失的主要原因之一。该病可导致中央视力永久性丧失，而中央视力对观察细微细节和远距离视物至关重要。 AMD有两种形式：湿性AMD和干性AMD。大多数AMD患者属于干性AMD。但干性AMD可能会发展为湿性AMD。 湿性AMD病情更为严重，可能导致严重的视力丧失。 - 一种用于识别和监测AMD早期至中期阶段的方法，可能有助于研究人员开发新的治疗方法，在疾病恶化前加以遏制。在干性AMD早期，患者夜间视力会变差。 研究人员希望研究一种测量眼睛对黑暗适应能力的检查方法，是否有助于识别和监测早期至中期的干性AMD。 研究目标： - 评估使用暗适应方案识别和监测早期至中期的干性年龄相关性黄斑变性的有效性。 研究设计： - 受试者将接受体格检查、病史询问、血尿检查以及全面眼科检查。 - 本研究为期5年，需至少9次前往美国国立卫生研究院（NIH）就诊。（首次就诊；第3、6、12、18和24个月的研究随访；以及3次年度随访）。 - 最多将有10名受试者被要求在首次就诊后1周返回诊所，测试研究中将使用的设备。 - 受试者将接受基线检查。相关问题将涉及不同光照条件下影响其视力的问题。 - 每次就诊时，受试者需回答有关总体健康状况及当前用药情况（包括任何维生素或膳食补充剂）的问题。此外，他们还将接受全面的眼科检查以及一项20至40分钟的测试。该测试用于测量眼睛在光照强度逐渐降低时恢复视力的速度，并评估眼睛对这些光照条件敏感度的变化。 - 参与者将在每年的随访检查中继续接受这些测试。对于其现有或研究期间可能出现的任何眼部疾病，将按照标准治疗方案进行治疗。 标题： AREDS2研究中使用Foresee家用设备监测视网膜新生血管性年龄相关性黄斑变性（neovascular AMD）进展情况 编号： 11-EI-0124 摘要： 背景： - 在湿性年龄相关性黄斑变性（AMD）中，新生血管会生长并导致液体渗入视网膜，从而引发视力丧失。部分研究表明，若能早期发现新生血管（脉络膜新生血管，简称CNV）的形成，即可尽早开始治疗， 从而可能有助于预防视力丧失。ForeseeHome设备是一种可能的早期检测方法，该设备属于一项旨在让患者在家中监测自身视力变化的项目。研究人员希望比较使用ForeseeHome设备者与未使用者眼部疾病的进展情况。 研究目标： - 确定使用ForeseeHome设备对年龄相关性黄斑变性进行居家监测，是否能比标准治疗更早地发现疾病进展。 研究设计： - 研究人员将通过体格检查、病史询问和眼科检查对受试者进行筛选。此外，还将向受试者介绍该设备的使用方法，以确定其能否在研究期间持续使用该设备。 - 一半的研究受试者将获得ForeseeHome设备；另一半则接受标准护理监测。 仅要求受试者监测存在进展为湿性AMD风险的眼睛。 - 被分配到设备监测组的受试者将获得ForeseeHome设备，这是一款个人监测仪，包含带观察器和内置屏幕的主机，以及连接电话线的调制解调器。 该线缆必须连接至固定电话线路，以便向研究赞助方传输数据。设备随附安装说明。 - 参与者需每日使用ForeseeHome设备，通过注视屏幕并识别屏幕上显示的特定图案。每次对每只高风险眼进行测试约需4分钟。 测试结果将通过调制解调器传输给研究赞助方，并由受过培训的人员进行审核。若测试结果表明眼部状况发生变化，研究赞助方将通过电话通知受试者及其AREDS2就诊诊所，并要求其在接到电话后的3天内预约检查。 - 标准护理组的受试者应继续 定期前往诊所就诊并参加AREDS2研究要求的随访，同时按照眼科医生提供的指示监测眼部症状，以识别可能出现的CNV。若视力出现任何变化，参与者应立即联系AREDS2诊所，并在3天内前往诊所就诊。 - ForeseeHome设备将在以下情况下归还：(1) 风险眼进展为CNV后；(2) 研究结束时；或(3) 设备使用产生的结果不可靠，以致无法通过该设备进行可靠监测时。 标题： 玻璃体腔内甲氨蝶呤治疗非感染性全葡萄膜炎、中段及后段葡萄膜炎相关黄斑水肿 编号： 11-EI-0107 摘要： 背景： - 葡萄膜炎是一组与眼部炎症相关的疾病，可能导致视力丧失。部分葡萄膜炎患者还会伴有黄斑水肿（眼底视网膜肿胀）。 葡萄膜炎和黄斑水肿通常采用药物治疗，有时也需手术治疗，但治疗并不总能防止视力丧失。 先前研究表明，对患有非葡萄膜炎眼疾的患者进行眼内甲氨蝶呤注射，有助于缓解导致黄斑水肿的炎症或肿胀，并能延缓视力下降。然而，该疗法尚未被批准用于治疗与葡萄膜炎相关的黄斑水肿。 目标： - 评估甲氨蝶呤注射作为治疗与葡萄膜炎相关黄斑水肿的安全性和有效性。 研究设计： - 本研究要求受试者在6个月（24周）内至少前往美国国家眼科研究所研究门诊9次。 - 受试者将接受全面体检和眼科检查、病史询问、血液和尿液检测，以及根据需要进行的其他眼科及相关检查。 - 受试者将在选定的治疗眼中接受甲氨蝶呤注射。 注射后，受试者需在注射后的3天内每天3次向该眼滴用抗生素眼药水，在注射后的1周内每天4次向该眼滴用亚叶酸（叶酸）眼药水，并在注射后的第二天口服一剂叶酸。 - 能够耐受首次注射的受试者，可在研究眼中每月接受一次注射，持续6个月。6个月后，若受试者因注射而出现改善，可评估是否每4至8周接受一次额外注射，直至研究人员结束研究。 标题： 一项旨在研究Palomid 529结膜下注射在新生血管性年龄相关性黄斑变性患者中安全性和耐受性的I期非盲研究 编号： 11-EI-0066 摘要： 背景： - 湿性年龄相关性黄斑变性（AMD）是指眼底出现异常血管增生，这些血管会渗出血液和其他液体，从而损伤眼睛、形成瘢痕并导致失明。被诊断为湿性AMD的患者体内一种名为血管内皮生长因子（VEGF）的化学物质分泌量增加。VEGF在人体血管形成过程中起着重要作用，人们认为减少VEGF的产生有助于湿性AMD患者，通过阻止或延缓异常血管的生长来改善病情。 抗VEGF药物已被用于降低VEGF的生成，但部分患者对这些药物未能产生完全反应。 - 体内一种名为mTOR的蛋白质在调节细胞分裂、生长及血液供应方面也起着关键作用。 实验性化合物Palomid 529可抑制mTOR的生成。研究人员希望确定Palomid 529是否安全，以及能否帮助那些对抗VEGF治疗反应不充分的湿性AMD患者。 研究目标： - 评估Palomid 529作为湿性年龄相关性黄斑变性治疗药物在对标准抗VEGF治疗无反应的患者中的安全性和有效性。 研究设计： - 在首次就诊前，受试者应已根据筛查或教学方案，或根据美国国立卫生研究院（NIH）方案 08-EI-0103《玻璃体腔内注射雷珠单抗诱导治疗新生血管性 。其中一只眼将被指定为研究眼，接受Palomid 529治疗。 - 受试者将接受全面的体格检查和病史采集，以及完整的眼科检查以评估眼部健康和视力， 血管造影以检查眼部血管，并在研究期间进行血液和尿液检测 - 在研究期间，受试者每4周将在研究眼中接受一次Palomid 529注射，共计三次。受试者还可能在Palomid 529注射前12天及后12天，在研究眼中接受抗VEGF注射，例如雷珠单抗 （Lucentis（注册商标））或贝伐珠单抗（Avastin（注册商标））等抗VEGF注射剂。 - 若受试者的非研究眼也患有湿性年龄相关性黄斑变性（wet AMD），可对其进行标准治疗，但在参与本研究期间，该非研究眼不得接受任何实验性治疗。 - 受试者将按照研究人员的指示返回进行长期随访检查。 标题： 肽B27PD（Optiquel）作为慢性非感染性自身免疫性葡萄膜炎（BOOTS）的类固醇节省疗法 编号： 10-EI-0191 摘要： 背景： - 葡萄膜炎是一种严重的炎症性疾病，人体免疫系统会攻击眼部某些部位，常导致视力丧失。葡萄膜炎的治疗涉及多种抑制免疫系统的药物，但这些药物有时无效，或可能引起严重的副作用。 研究人员致力于开发更有效且副作用更少的葡萄膜炎新疗法。 - Optiquel（商标）是一种天然产物。它是一种正在接受葡萄膜炎疗效测试的实验性药物。 该药物含有 B27PD，这是一种小蛋白质片段，与免疫系统攻击的眼部组织中的蛋白质相似。口服 B27PD 可能诱导“口服耐受性”，使免疫系统学会识别并停止攻击人体的正常组织。 研究目标： - 评估 B27PD（Optiquel（商标））作为葡萄膜炎治疗药物的安全性和有效性。 研究设计： - 受试者将通过体格检查、病史询问、血液和尿液检测以及眼科检查进行筛选。 - 本研究为期52周，期间需进行至少17次研究随访。 - 受试者将被分为三组，并随机分配接受两种不同剂量的B27PD中的一种或安慰剂。研究期间，受试者的泼尼松或其他类固醇药物的剂量也将逐步减少。 - 受试者每周一、周三和周五各服用一粒药片，共持续26周。药片应在早晨服用（餐后至少4小时，且餐前至少30分钟）。受试者可用水送服药片，但为防止胃部不适，服药后至少30分钟内不得饮用任何其他饮料或进食任何食物。药片应存放在冰箱中。 - 在研究的前12周内，受试者每2周进行一次随访。在研究的剩余期间，受试者每4周进行一次随访。受试者将接受频繁的血液和尿液检测，还将进行眼科检查及特殊检查 （荧光素血管造影和吲哚青绿血管造影），以评估治疗效果。 标题： 针对葡萄膜炎性黄斑水肿受试者的微纤溶酶玻璃体腔内给药研究 编号： 10-EI-0186 摘要： 背景： - 葡萄膜炎是一种严重的炎症性疾病，人体免疫系统会攻击眼部某些部位，常导致视力丧失。部分葡萄膜炎患者还会伴有黄斑水肿（眼底视网膜肿胀）。葡萄膜炎和黄斑水肿通常通过药物治疗，有时也需手术治疗， 但对许多患者而言，治疗并不能预防视力丧失。 - 研究表明，将实验室合成的蛋白质微纤溶酶注射到患有非葡萄膜炎类眼病患者的眼中，有助于治疗黄斑水肿并延缓视力丧失。 微纤溶酶尚未获批用于治疗葡萄膜炎；然而，研究人员希望确定它是否可作为治疗与葡萄膜炎相关黄斑水肿的一种安全有效的疗法。 研究目的： - 探讨玻璃体腔内注射微纤溶酶作为治疗葡萄膜炎继发性黄斑水肿的潜在疗法，其安全性、耐受性及潜在疗效。 研究设计： - 参与者将通过体格检查、病史询问、血液和尿液检测以及眼科检查进行筛选。 - 研究为期6个月，受试者需前往美国国家眼科研究所门诊部接受8次随访。每次随访约需3至4小时。 - 在首次就诊时，受试者将接受全面的体格检查和眼科检查、病史采集、血液检查，以及两项眼部影像学检查（B超和荧光素血管造影）。 检查完成后，参与者将接受微纤溶酶的眼内直接注射。注射后3天内，参与者需每日三次使用抗生素眼药水。 - 参与者将在6个月内定期进行随访，以评估微纤溶酶注射的效果。 这些随访将包括全面的体格检查和眼科检查、血液检测以及眼部影像学检查（B超和荧光素血管造影）。 标题： 糖尿病黄斑水肿患者与非患者中单核苷酸多态性（SNPs）的评估 编号： 10-EI-0169 摘要： 背景： - 糖尿病黄斑水肿（DME）是糖尿病患者中的一种常见病症。当眼部血管渗出液体时，就会发生DME，导致眼底组织肿胀并逐渐导致视力下降。 研究表明，良好的血糖控制可以降低DME的风险和严重程度。然而，并非所有血糖控制不佳的糖尿病患者都会发展为DME，而有些患者即使血糖控制极佳，仍会发生DME。这表明其他因素（如基因或遗传特征）可能使糖尿病患者易患或不易患DME。 研究目的： - 探究可能影响糖尿病黄斑水肿发生的遗传因素。 研究设计： - 本研究需要受试者前往美国国立卫生研究院眼科门诊进行一次就诊。 - 受试者将接受病史询问和基础眼科检查。除DME外患有其他特定眼部疾病的受试者可能无法参与本研究。 - 参与者需提供血液样本，并接受荧光素血管造影检查（注射荧光素染料后，相机将拍摄染料在眼部血管中流动时的图像）。 - 本研究方案不提供任何治疗。 标题： 普拉奎尼尔（注册商标）诱导性视网膜毒性患者的基因型-表型研究，并评估ABCA4基因 编号： 10-EI-0140 摘要： 背景： - 羟氯喹（Plaquenil）是一种抗炎药物，用于治疗系统性红斑狼疮和类风湿性关节炎等某些自身免疫性疾病。该药物可能引发一种称为“羟氯喹诱导的视网膜毒性”的病症，从而损伤视网膜，进而导致视力丧失。 然而，大多数服用羟氯喹的人并不会出现这一问题。研究人员希望探究个体的基因差异是否能解释为何有些人会出现羟氯喹诱导的视网膜毒性，而另一些人则不会。 研究目的： - 调查某些基因或基因突变与羟氯喹诱导的视网膜毒性之间可能存在的关联。 研究设计： - 该研究要求受试者在最长 2 年的研究期间内，前往美国国家眼科研究所或研究门诊进行一至两次就诊。 - 受试者需提供个人及家族病史，并接受全面的眼科检查。 - 受试者还将提供血液样本用于检测。 - 本研究方案中不会提供任何治疗。 标题： 评估米诺环素作为小胶质细胞抑制剂治疗糖尿病黄斑水肿的试点研究 编号： 10-EI-0098 摘要： 背景： - 糖尿病视网膜病变，即眼底微血管受损，是糖尿病的常见并发症，也是导致失明的主要原因之一。 糖尿病视网膜病变可导致眼内水肿，即糖尿病黄斑水肿，从而造成视力丧失。 - 慢性炎症被认为是导致糖尿病黄斑水肿的因素之一。小胶质细胞是视网膜中参与视网膜炎症反应的细胞。 基于上述原因，小胶质细胞成为限制糖尿病视网膜病变中有害炎症变化的治疗方法中极具前景的细胞靶点。米诺环素是一种目前已获批用作抗生素的药物，可能能够抑制小胶质细胞，从而减轻其对慢性炎症的贡献。 研究人员希望探讨米诺环素是否可用于治疗糖尿病黄斑水肿或延缓其进展。 研究目标： - 评估米诺环素作为糖尿病黄斑水肿治疗手段的安全性和有效性。 研究设计： - 本研究为期2年，需至少14次前往美国国家眼科研究所门诊就诊。 研究随访在前2个月为每月一次，之后为每两个月一次。每次随访约需2至4小时。 - 受试者将在24个月内每日两次服用米诺环素片。 - 每次随访时，受试者将接受全面的眼科检查，以测量视功能、视网膜厚度及眼部血流情况。受试者还将定期进行血液检查，包括血糖检测。 - 入组患者此前均接受过局灶性激光治疗，或不适合接受局灶性激光治疗。在第6个月、第12个月和第18个月的随访中，如果参与者符合条件，将为其提供激光治疗，除非其视网膜厚度或视力已出现显著改善。 - 研究结束后，将安排由外部眼科医生提供随访护理。 标题： 贝赫切特病的免疫遗传学机制 编号： 10-EI-0093 摘要： 背景： - 葡萄膜炎（眼内炎症）是每年导致大量新发法定失明病例的主要原因。葡萄膜炎可由贝赫切特病（BD）引起，这是一种慢性炎症性疾病，可影响眼部、 黏膜以及关节、肠道、血管和中枢神经系统等其他器官。 研究目的： 本研究旨在探讨基因如何影响贝赫切特病，以及不同背景人群中的贝赫切特病是否存在差异。 研究设计： - 作为研究的一部分，将在疾病活动度加剧时，以及贝赫切特病（BD）治疗方案发生重大调整的前后，采集参与者的血液样本。 - 本研究不会提供任何治疗。 标题： 利妥昔单抗治疗自身免疫性视网膜病变 编号： 10-EI-0040 摘要： 背景： - 自身免疫性视网膜病变（AIR）是一种炎症性疾病，患者的自身免疫系统会攻击其眼睛并导致视力丧失。AIR患者通常使用免疫抑制剂来治疗眼部炎症；然而， 该疾病的标准治疗方案仍在研发中。 - 利妥昔单抗是一种免疫抑制剂，属于单克隆抗体，其靶向作用于免疫系统中可能导致AIR的重要部分。利妥昔单抗已获批用于治疗非霍奇金淋巴瘤和类风湿性关节炎， 但尚未获批用于治疗AIR。研究人员希望确定利妥昔单抗是否可用于治疗AIR。 研究目的： - 探讨利妥昔单抗作为AIR治疗方案的安全性、耐受性和潜在疗效。 研究设计： - 研究开始前，将对受试者进行筛查，包括病史询问、免疫接种记录、一系列眼科检查、胸部X光检查、心电图及血液检查。 - 在为期18个月的研究期间，受试者将接受最多两个周期的利妥昔单抗治疗。每个周期包括两次独立的利妥昔单抗静脉输注，两次输注间隔2周。 - 受试者将在首个利妥昔单抗治疗周期结束后6周返回诊所进行安全性随访，包括常规眼科检查和体格检查。此外，他们还将提供血液及其他样本供研究使用。 - 安全随访后，受试者将每3个月返回诊所进行随访。 - 在第6个月的随访中，对利妥昔单抗产生完全或部分应答的受试者将接受另一个治疗周期。未产生应答的受试者将不再接受后续治疗，但将继续接受监测直至研究结束。 标题： 精神分裂症患者眼动内部监测 编号： 10-EI-0016 摘要： 背景： - 研究人员正在研究人类如何在目标消失后，仍能将视线移向记忆中的区域。这种能力表明，大脑能够追踪视线曾注视过的位置， 而无需依赖外部目标作为持续参考。这一现象被称为“伴随放电”。 - 其他研究表明，精神分裂症患者可能难以监控自己的眼动。精神分裂症患者的伴随放电过程可能存在缺陷，且可能出现时间延迟。 研究人员已开发出一项测试来验证这一假设，希望借此进一步了解精神分裂症与眼动之间的关系。 研究目标： - 评估精神分裂症患者在眼动内部监测方面是否存在缺陷。 研究设计： - 研究人员将检查受试者每只眼睛的视力，并请其坐在测量眼动装置前完成研究任务。研究人员将监测受试者完成这些任务的能力。 - 第一项任务仅需追踪一个在屏幕不同位置跳跃的目标。 - 第二项任务分为两个步骤：首先要求受试者注视两个独立的光标目标，随后在灯光熄灭时注视记忆中的目标位置。 - 本研究方案不提供任何治疗。 参与者在参与本研究方案期间，仍将由其主治医生负责诊疗。 标题： 眼部疾病潜在研究参与者的评估与治疗方案 编号： 08-EI-0169 摘要： 本研究将对患有各种眼部疾病的人群进行评估并提供标准治疗。该研究将为眼科研究所内新研究方案的受试者招募提供资源，并使研究所专家有机会保持专业水平，同时进一步了解各种眼部疾病的病程。所获得的信息将有助于评估标准治疗方案，并可能为未来的研究提供思路。 标题： 针对新生血管性年龄相关性黄斑变性，采用雷珠单抗玻璃体腔内注射诱导/按需给药方案时的高速吲哚菁绿血管造影结果 编号： 08-EI-0103 摘要： 本研究将采用一种名为高速吲哚菁绿血管造影（HS-ICG）的眼部成像检查技术，该技术可检测眼内渗漏血管，旨在探究患者对兰尼比珠单抗（Lucentis）治疗湿性年龄相关性黄斑变性 （AMD）。该药物虽已获美国食品药品监督管理局（FDA）批准用于治疗此病，但个体对治疗的反应存在显著差异。 研究期间，每月向研究眼注射一次雷珠单抗，持续4个月。仅当研究眼出现出血或渗液迹象时，才会进行额外注射。 注射前会对眼部进行麻醉，并用消毒剂清洁眼周区域。注射后需连续3天使用抗生素眼药水以预防感染。 在接下来的2年内，每月需到诊所复诊一次，以评估并监测治疗反应。评估可能包括以下检查和测试： - 眼科检查，包括 散瞳、光学相干断层扫描及眼底摄影：该检查将测量视力、视网膜（眼球后部）厚度及眼压。医生会使用强光照射，以便观察眼底情况。可能拍摄眼底照片。 -荧光素血管造影检查眼部血管：将一种名为荧光素的染料注入手臂静脉。染料通过静脉流向眼部血管。摄像机将拍摄染料在血管中流动时的图像。研究期间将进行8次此项检查。 -吲哚菁绿血管造影检查：该操作流程与荧光素血管造影相同，但使用名为吲哚青绿的造影剂。在研究的第一年，此项检查每月进行一次，之后每3个月进行一次。 标题： 潜在研究受试者评估与诊断筛查研究 编号： 08-EI-0102 摘要： 本研究将为美国国家眼科研究所（NEI）的医生提供机会，对患有眼部疾病的人士（无论是否已确诊）进行检查，以确定他们是否符合参与其他NEI研究项目的条件。本研究不提供任何治疗。 参与者将接受各种检查和操作，以诊断或评估其眼部疾病。这些操作可能包括以下内容： -个人及家族病史 -体格检查和血液检测，包括基因检测。 -散瞳眼科检查，用于测量视力和眼压，并检查眼球前部和后部。 -关于视力和日常活动的问卷调查。 -结膜拭子或泪腺活检，或两者兼有：通过擦拭眼球表面或手术切取眼球表面或泪腺的小块组织，采集眼部细胞样本。 -视网膜电图检查以评估视网膜功能：受试者坐在黑暗中， 或双眼被眼罩遮盖30分钟。取下眼罩后，对眼球表面进行局部麻醉，并佩戴能感知视网膜信号的隐形眼镜。随后受试者观察闪烁的灯光。 -荧光素血管造影检查眼部血管：将造影剂注入手臂静脉。造影剂通过静脉流向眼部血管。相机在造影剂流经血管时拍摄图像。 -光学相干断层扫描（OCT）用于测量视网膜厚度：一种眼部检查仪器可生成视网膜的横截面图像。 -微视野检查用于测试视网膜不同部位对光照强度变化的敏感程度。 受试者坐在电脑前，当看到屏幕上的光点时按下按钮。 -眼动图法，用于记录眼球运动：受试者佩戴隐形眼镜或护目镜，在观察电脑屏幕上的一系列光点时，仪器会测量其眼球运动。 标题： 退行性及炎症性眼病的表观遗传学、分子遗传学与生物标志物 编号： 08-EI-0099 摘要： 本研究旨在鉴定与视网膜（位于眼球后部、负责将视觉信号传递至大脑的膜状组织）炎症或退化相关的基因。目前认为，许多视网膜疾病是由于免疫系统功能异常所致，其病因与个体的基因功能及基因间通信方式密切相关。 受试者将接受以下检查和操作： - 眼科检查，以评估视力（视力表测试）和眼压，并检查瞳孔、晶状体、视网膜及眼球运动。还可能拍摄眼内照片。为此检查，将使用眼药水使瞳孔散大。 -抽血进行基因检测。 参与者还可能接受以下一项或多项检查： -光学相干断层扫描。这是一种拍摄眼底图像的技术，用于测量视网膜厚度。 -荧光素血管造影和吲哚菁绿血管造影。使用荧光素或吲哚菁绿染料拍摄眼部血管图像。 染料通过手臂静脉注射进入体内，随后流向眼部血管。相机在染料流经血管时进行拍摄。 -视网膜电图（ERG）用于测量视网膜功能。患者需在暗室中闭眼静坐30分钟，双眼均需佩戴眼罩。随后，将一个小型金属圆盘电极用胶带固定在额头上， 取下眼罩，用眼药水对眼球表面进行麻醉，并给患者佩戴隐形眼镜。 随后，受试者观察闪烁的光线。当光线闪烁时，隐形眼镜会感应到视网膜产生微弱的电信号。 标题： 年龄相关性眼病研究（AREDS）随访 编号： 08-EI-0043 摘要： 本研究是AREDS方案的5年延期研究，研究人员在此期间跟踪了年龄相关性黄斑变性（AMD）和白内障的自然病程。 参与者每年接受一次全面的眼科检查，并在两次检查之间至少每年联系一次以了解其状况。 眼科检查包括视力检测（视力表测试）以及滴眼药水扩张瞳孔后对眼内结构的检查。可能会使用一种向眼内闪烁强光的特殊相机拍摄眼内照片。可能会采集血液样本，以检测胆固醇水平和与炎症相关的基因。 标题： 视动协调 编号： 08-EI-0031 摘要： 背景： -眼球运动与大脑功能之间的关系是美国国家眼科研究所关注的课题。 -通过对比健康志愿者的眼动情况与针对眼球运动困难患者所进行的研究，美国国家眼科研究所希望为眼病患者开发并改进诊断程序。 目标： -研究100名健康成人和儿童志愿者的眼动情况。 -了解个体如何观察视觉图案，以及眼动如何影响视觉能力。 研究设计： -参与者将前往国家眼科研究所门诊部接受检查和测试。 -参与者将接受病史筛查和眼科检查（包括眼压和眼动测试）。 - 眼部健康的参与者将参加眼动测试实验： -- 每次持续时间少于三小时，共进行一次或多次测试。 -- 将通过专用隐形眼镜或视频/红外摄像系统记录眼动情况。 -- 根据本方案进行的大多数研究，仅需进行一到两次测试。 少数记录极微小眼动的研究将需要三次或更多次实验。 标题： X染色体核型及性激素对特纳综合征和卵巢早衰患者眼部的影响 编号： 07-EI-0145 摘要： 患有早发性卵巢功能衰竭（POF）的女性有患干眼症的风险。此外，部分特纳综合征（TS）患者 （TS）的女性也报告了干眼症状。本研究旨在确定TS女性中干眼症的患病率，并将其与POF女性及无上述病症的女性进行比较。 -病史：受试者需说明其当前及既往的疾病状况，以及过去接受过的治疗。 受试者需填写问卷，说明眼睛的舒适度以及干眼症是否对其造成困扰。 -泪液及眼表评估：通过将一小片无菌纸置于眼角5分钟，测量眼睛的泪液分泌量。 此外，还会在眼中滴入橙色和绿色染料，以评估眼表的健康状况。 -眼科检查：测量视力（辨识视力表的能力）和眼压（眼内液体压力）。检查瞳孔及眼球运动情况。 通过显微镜检查眼内结构。滴入眼药水使瞳孔放大后，检查晶状体和视网膜（眼球后部）。 使用眼底镜（一种带有强光和放大镜的仪器）检查视网膜。 -抽血：通过手臂上的针头抽取血液样本，以检测性激素水平。 -结膜拭子及泪液采集：可能将少量泪液收集到小试管中，以研究其粘稠度和成分。可能使用拭子或滤纸从一只眼睛的表面刮取表层细胞进行研究。 标题： 国家眼科基因分型与表型分析网络，第一阶段——建立遗传性眼病DNA库 编号： 06-EI-0236 摘要： 本研究将从遗传性眼病患者处采集血液和DNA样本，用于研究以确定导致这些疾病的遗传因素。近年来，已鉴定出近500个与遗传性眼病相关的基因。导致疾病的致病突变与多种眼病相关，包括青光眼、白内障、斜视、角膜营养不良以及多种形式的视网膜变性。因此，目前正在探索基于基因的疗法，以治疗那些曾经被认为无法治愈的遗传性眼病。 国家眼科基因分型网络（eyeGENE（注册商标））正在建立一个全国性的组织库，以进一步推进遗传性眼病的研究，同时向提出请求的患者和医生提供具有临床实用价值的信息。合作机构的医生将招募患者参与该研究。 患者需提供血液样本并接受常规眼科检查。随后，血液样本和临床信息将被送至美国国家眼科研究所（NEI）进行检测、处理并存储于组织库中。患者可选择接收检测结果，以及/或在未来开展临床研究时被再次联系。提供给检测实验室的信息包括唯一的识别 号、患者性别及出生日期。存储的样本将连同患者疾病相关信息一并提供给研究人员，但其中不包含患者身份识别信息。 标题： 葡萄膜裂孔的家族研究 编号： 06-EI-0230 摘要： 本研究旨在鉴定导致葡萄膜缺损的基因。葡萄膜缺损是一种眼部发育异常，由人类胚胎出生后第五周时，眼部正常存在的间隙（视神经裂隙）未能完全闭合所致。此前已有针对多个家庭成员患有此病症的家族研究。 虹膜裂孔的发病率约为每10,000名活产婴儿中就有1例，可能导致严重的视力丧失。研究人员希望更深入地了解导致该疾病的基因。 患者将接受详细的病史询问和适合其年龄的眼科检查。 将通过滴眼液使瞳孔散大。瞳孔散大状态将持续4至6小时，佩戴太阳镜可减轻许多患者在光线明亮区域可能出现的暂时性眩光。此外，还将拍摄眼球前部或后部的照片，该操作同样需要散大瞳孔。 患有裂孔的患者将接受全面的体格检查。将采集血液样本，10岁及以上患者总共约2汤匙，年龄较小的患者则按每5磅体重约1茶匙的标准采集。此外，患有裂孔的患者可能需要接受X光检查、超声检查， 或其他医学指征所需的检查。 为了获得足够的DNA用于研究，研究人员可能会建立细胞系以扩增DNA。 实验室样本将进行编码处理，以确保本研究中不包含任何可识别参与者身份的信息。除非患者给予许可，否则不会对采集的血液样本进行任何其他检测或研究。未经您的明确许可，研究人员不会向他人提供有关患者健康状况的信息。 标题： 眼部炎症性疾病中的玻璃体蛋白组与炎症介质 编号： 06-EI-0068 摘要： 本研究将分析葡萄膜炎（即眼部炎症）患者的蛋白质。借助新型微技术，现在可以对玻璃体（一种填充在晶状体后方、充盈眼球内部的无色透明物质）进行评估。 这为评估严重、非感染性且危及视力的葡萄膜炎中存在的蛋白质种类提供了机会。 研究人员将研究在患者接受类固醇植入物手术时从眼内取出玻璃体样本。类固醇植入物可替代免疫抑制疗法，用于抑制免疫系统的活性。 患者将接受一项手术，该手术需在眼球上开一个小孔以植入假体。通常在该手术过程中会流出少量玻璃体，在本研究中，将采集这些玻璃体样本以检测其中是否含有炎症产物。同时， 还将采集少量血液样本（约1.5汤匙），以便研究人员将血液中可能存在的炎症产物与玻璃体中的炎症产物进行比较。如果患者在研究期间需要再次植入该植入体，将像以前一样征得其同意，以采集玻璃体和血液样本， 具体操作与之前相同。采集的样本不会用于诊断患者的病情，也不会因此改变任何正在进行的治疗方案。所有样本都将标有特殊的代码编号，以确保不包含任何可识别患者身份的信息。本研究不涉及对患者的检查或定期随访。 标题： 青光眼及相关疾病家族的临床与分子研究 编号： 06-EI-0059 摘要： 本研究旨在记录青光眼及相关疾病（包括正常眼压性青光眼（NTG））的临床和遗传特征。研究人员希望明确遗传因素的影响，并最终分离出导致这些疾病的基因。 青光眼是美国乃至全球导致视力丧失的重要原因之一。该疾病的特征是视网膜和视神经逐渐受损，通常伴有眼内压升高。它通常具有遗传性。本研究将在5年内招募250至2,000名患者，为期5年。该研究将

This contract is designed to attain extramural support for developing, designing, interpreting, and evaluating clinical trials, epidemiologic and natural history studies. In addition, it will provide for outcomes research involving eye diseases and visual disorders and some preclinical studies. The focus shall be on the design of studies and the collection, analysis, and interpretation of data emanating from these studies, as well as support, and monitoring patient safety and follow-up. Contractor shall also provide analytical and data management support, as described in the work statement, for specified clinical research data bases, cost-effectiveness and economic analyses, quality of life assessment and outcomes research. This will include, but not be limited to, the following areas: analysis of Medicare and other health care databases; evaluation of existing NEI databases such as, centralized NEI Intramural Research database, the Eye Disease Case Control Study, Early Treatment Diabetic Retinopathy Study, Framingham Eye Study, and intramural AIDS and uveitis databases. The 50 active trials in 2012 are listed below: For more info: http://clinicalstudies.info.nih.gov/cgi/protinstitute.cgi?NEI.0.html Title: A Pilot Study to Investigate Ustekinumab (StelaraTM) for the Treatment of Active Sight-Threatening Uveitis Number: 12-EI-0168 Background: - Uveitis is an eye inflammation that can cause vision loss. It is treated with eye drops, drugs and sometimes surgery. In some people, treatment may not prevent vision loss. A type of white blood cells called T-cells often have a role in causing uveitis. In some cases of uveitis, T-cells attack the eye and cause inflammation. A drug called ustekinumab reduces inflammation from these T-cells. Researchers want to see if ustekinumab can be used to treat uveitis. Objectives: - To see if ustekinumab can be used to treat uveitis. Eligibility: - Individuals at least 18 years of age who have active uveitis that needs treatment. Design: - Participants will be screened with a physical exam, eye exam, and medical history. Blood and urine samples will be taken. - Participants will have at least eight clinic visits during the 64-week study period. After the first visit, visits will occur at 2, 4, and 8 weeks, and then every 12 weeks. - Participants will have a ustekinumab injection at the first study visit. They will have additional doses at the second and third visits, and then every 12 weeks until 1 year after the first dose (Week 52). - Treatment will be monitored with frequent blood tests and eye exams. Other standard treatments for uveitis may be given as needed. - There will be a final study visit 3 months after the last injection. Title: A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor (CNTF) in Participants with CNGB3 Achromatopsia Number: 12-EI-0167 Background: - Achromatopsia is an inherited condition that causes vision loss because cells in the retina do not work properly. It causes loss of acuity, sensitivity to light, and loss of color vision. There are no effective treatments for achromatopsia. - Four genes currently are known to cause achromatopsia. One of these, the CNGB3 gene, is the cause in about 50 percent of people. - CNTF is a natural chemical found in the body that promotes survival and function of nerve cells. CNTF has been shown to be effective in treating retinal disease in animals and can slow vision loss. - CNTF has also been studied in over 250 people with retinal disease other than achromatopsia. In these studies, a CNTF implant was placed into the eye during a simple surgery. The implant releases CNTF inside the eye, near the retina. These studies suggested that a CNTF implant might help vision in some eye diseases. Objectives: - To learn whether a CNTF implant is safe for people with CNGB3 achromatopsia. - To learn whether CNTF can improve visual acuity or color vision, and whether it may reduce sensitivity to light in people with CNGB3 achromatopsia. Eligibility: You may be able to take part in this study if you: - Are at least 18 years old. - Test positive for mutations in the CNGB3 gene and have no mutations in another achromatopsia gene. - Have 20/100 vision or worse in at least one eye. - Are not pregnant or nursing. Design: - To determine if you can take part, we will ask about your medical history and do a physical examination and an eye examination. Blood and urine samples will be taken. - This study requires 11 visits to the National Eye Institute over 3 years. - One visit will be for the implant surgery. The implant will be placed in one eye only. - Study visits will take place 1 day after implant surgery, and again 1 week later and 1 month, 3 months, 6 months, 1 year, 1.5 years and 3 years later. These visits will help us evaluate the safety and benefit of the implant on your eye. - At the 3 year visit, you can choose to keep the CNTF implant in your eye, or you can have us remove it. Title: A Phase II Randomized Study to Compare Anti-VEGF Agents in the Treatment of Diabetic Macular Edema (CADME) Number: 12-EI-0134 Background: - Diabetic macular edema is a common eye complication of diabetes. It causes the blood vessels in the retina at the back of the eye to leak, causing swelling. The macula is the center part of the retina that is important for seeing fine details and for tasks such as reading, driving, or sewing. Swelling of the macula leads to vision loss and possible blindness. Inflammation may play a role in diabetic macular edema. It is also possible that there is a problem with the blood vessels and the blood supply to cells of the retina. - A chemical in the body called VEGF is important in the formation of blood vessels in the body. Lowering VEGF levels may help treat diabetic macular edema by reducing abnormal leaking blood vessels in the eye. Drugs that can lower or block VEGF include ranibizumab and bevacizumab. Both drugs have been shown to help treat diabetic macular edema. Researchers want to see if one of the drugs works better than the other. Objectives: - To compare the effectiveness of ranibizumab and bevacizumab injections for diabetic macular edema. Eligibility: - Individuals at least 18 years of age who have diabetic macular edema in at least one eye. Design: - Participants will be screened with a physical exam and medical history. A full eye exam will be performed. Blood and urine samples will be collected. - One eye will be selected as the study eye to receive treatment. If both eyes are affected, both eyes may be enrolled in the study and receive different drug treatments. - The main part of the study will last for 9 months. At each study visit, participants will have physical exams and eye exams. They will answer questions about their health and any side effects from the drugs. - Participants will be assigned to one of four groups. Two groups will have two series of ranibizumab and one series of bevacizumab shots. The other two groups will have two series of bevacizumab and one series of ranibizumab shots. A series is three eye injections of the same drug every 4 weeks. The injections will be given at these study visits. The series order will vary for the different groups. - After 9 months, participants will continue to have additional study visits. If the treatment seems to be successful, the study doctor may increase the time between visits. Study injections may be given as needed every 4 weeks for up to 3 years. - Participants may have laser treatments in a study eye if needed. After being in the study for 1 year, they may also have steroid injections or other treatments as directed for the macular edema. Title: Phase II, Randomized, Placebo-Controlled Study for the Evaluation of Finasteride in the Treatment of Chronic Central Serous Chorioretinopathy Number: 12-EI-0119 Background: - Central serous chorioretinopathy (CSC) is a disease that causes fluid to collect under the retina. It affects the macula, which is in the center of the retina and is needed for sharp, clear vision. In many cases, CSC resolves on its own and does not need treatment. However, in some cases it does not go away or comes back after treatment. This is known as chronic CSC. - Chronic CSC may be caused by hormones called androgens. Finasteride is a drug that can alter the effects certain of androgens. Researchers want to compare finasteride with a placebo to see if it is a safe and effective treatment for chronic CSC. Objectives: - To see if finasteride is a safe and effective treatment for chronic CSC. Eligibility: - Individuals at least 18 years of age who have chronic CSC in one or both eyes. Design: - Participants will be screened with a physical exam and medical history. A full eye exam will be performed. Blood and urine samples will also be collected. - Some participants may have photodynamic therapy (PDT), the standard treatment for CSC. PDT helps to reduce the amount of fluid in the eye. Participants will need to wait for 3 months after PDT before starting the finasteride study. - Participants will be separated into two groups. One group will take finasteride; the other group will take a placebo pill. They will take these pills for 3 months. - After 3 months on the assigned pill (finasteride or placebo), all participants will have the opportunity to take finasteride for at least another 4 years and 9 months. - Participants will have regular study visits. At each visit, they will have physical exams and eye exams. They will also provide blood and urine samples. Title: Blood and Saliva Sample Collection and Submission to the Age-Related Eye Disease Study 2 (AREDS2) Genetic Repository Number: 12-EI-0085 Background: - The Age-Related Eye Disease Study 2 (AREDS 2) is looking at different eye diseases. Study participants will provide blood and saliva samples. The samples will be stored for research on eye diseases. Objectives: - To collect blood and saliva samples for AREDS 2 research. Eligibility: - AREDS 2 research study participants. Design: - Participants will provide blood and saliva samples. - The samples will be submitted with personal and medical information. This information will be collected during the AREDS 2 procedures. Title: A Phase I Study to Investigate Subconjunctival Sirolimus for the Treatment of Active Autoimmune Non-Necrotizing Anterior Scleritis Number: 12-EI-0057 Background: - Autoimmune scleritis is an inflammatory disease that affects the white outer part of the eye. It is associated with immune system disorders like rheumatoid arthritis. It can cause blindness in severe cases. Most treatments for scleritis involve steroid or immune-suppressing drugs, but these can cause side effects in the whole body. - Sirolimus is a drug used to help prevent transplant rejection. It helps prevent the immune system from attacking the body. Researchers want to try giving sirolimus injections into the eye to treat severe scleritis. Objectives: - To see if sirolimus is a safe and effective treatment for autoimmune scleritis. Eligibility: - Individuals at least 18 years of age with autoimmune scleritis in at least one eye that has not responded to standard treatments. Design: - Participants will be screened with a medical history, physical exam, and eye exam. Blood and urine samples will also be collected. - One eye will be selected as the study eye to receive injections. - Participants will have six study visits over 4 months (initial visit and weeks 2, 4, 8, 12, and 16). The injection will be given at the first visit. If the study eye responds to the treatment, participants may have injections in the other eye at the second visit. - If there is still inflammation after the first injection, or if the scleritis improves but then returns, participants may have a second injection at Week 4. - Treatment will be monitored with blood tests and eye exams. - Participants may have study visits and injections for up to 1 year if the treatment seems to be working. Title: NEI Intramural Biorepository for Retinal Diseases Number: 12-EI-0042 Background: - To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some people respond to treatment while others do not. Researchers want to collect physical samples and personal data to develop a National Eye Institute database. Objectives: - To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies. Eligibility: - Individuals of any age with different types of eye disease. - Healthy volunteers with no history of eye disease. Design: - Participants may be recruited from National Eye Institute studies or may be referred from other sources. - Participants will be screened with a physical exam and medical history. They will also have a full eye exam. Questions will be asked about family medical history, especially about eye disease. - Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and urine, may be collected as needed. Adult participants may also provide a skin sample. - Tissue or fluid from eye collected as part of eye care or treatment may also be added to the database. - No treatment will be provided as part of this study. Title: Pilot Phase I/II study of the Treatment of Classic Central Serous Chorioretinopathy with Topical Interferon Gamma-1b Number: 12-EI-0013 Background: - In the eye disease central serous chorioretinopathy (CSC), fluid collects under the retina at the back of the eye. CSC can resolve on its own, but in some people it lasts for several months or can come back. The fluid buildup during CSC can cause vision loss. The drug interferon gamma-1b can help reduce fluid accumulation in the retina. Researchers want to see if interferon gamma-1b can help treat and prevent vision loss from CSC. Objectives: - To see interferon gamma-1b eye drops are a safe and effective treatment for CSC. Eligibility: - Individuals at least 18 years of age who have CSC in at least one eye. Design: - Participants will be screened with a physical exam and medical history. They will also have an eye exam and blood tests. - This study will require at least six visits to the National Institutes of Health eye clinic over 8 weeks. Each visit will last up to 4 hours. - Participants will receive the study eye drops at the initial visit. The drops must be used three or four times a day for 2 weeks. They must be stored in a cool place (like a refrigerator). - Participants will return to the eye clinic 2 days after the first visit and 1, 2, 4, and 8 weeks after starting the study eye drops. These visits will involve blood tests and eye exams. - If the CSC does not improve after the first 2 weeks, participants will receive another 2 weeks of eye drops. This set will start 4 weeks after the initial study visit. - The study will end with the final visit, 8 weeks after the initial study visit. Title: A Pilot Study for the Evaluation of Minocycline as a Microglia Inhibitor in the Treatment of Central Retinal Vein Occlusions Number: 11-EI-0264 Background: - Central retinal vein occlusion (CRVO) is a blockage of the main vein that carries blood away from the retina in the back of the eye. It can lead to macular edema, a swelling of the retina that is a common source of vision loss. Studies suggest that inflammation might be a cause. Minocycline is a drug that might help prevent cells involved in inflammation from becoming activated. It is approved for use as an antibiotic, but it has not yet been tested to see if it can treat CRVO. Objectives: - To test the safety and effectiveness of minocycline as a treatment for central retinal vein occlusion. Design: - This study lasts 2 years, with at least 25 visits to the National Eye Institute. Participants must agree to protect themselves from sunlight or artificial ultraviolet rays while in this study. - Participants will be screened with a physical exam and medical history. They will also have blood tests and an eye exam. One eye will be selected as the study eye to receive the medicine. - Participants will take minocycline or a placebo pill twice a day, about 12 hours apart, for 2 years. - Participants will have monthly visits for blood tests and full eye exams to study the effect of the treatment. Other exams may include thyroid tests and eye imaging studies. Those in the study may also receive injections of a drug to prevent the growth of new blood vessels in the eye. Title: A Pilot Study for the Evaluation of Minocycline as a Microglia Inhibitor in the Treatment of Branched Retinal Vein Occlusions Number: 11-EI-0263 Background: - Branch retinal vein occlusion (BRVO) is a blockage of the small veins that carry blood away from the retina in the back of the eye. It often leads to macular edema, a swelling of the retina that is a common source of vision loss. Studies suggest that inflammation might be a cause. Minocycline is a drug that might help prevent cells involved in inflammation from becoming activated. It is approved for use as an antibiotic, but it has not yet been tested to see if it can treat BRVO. Objectives: - To test the safety and effectiveness of minocycline as a treatment for branch retinal vein occlusion. Design: - This study lasts 2 years, with at least 25 visits to the National Eye Institute. Participants must agree to protect themselves from sunlight or artificial ultraviolet rays while in this study. - Participants will be screened with a physical exam and medical history. They will also have blood tests and an eye exam. One eye will be selected as the study eye to receive the medicine. - Those in the study will take minocycline or a placebo pill twice a day, about 12 hours apart, for 2 years. - Participants will have monthly visits for blood tests and full eye exams to study the effect of the treatment. Other exams may include thyroid tests and eye imaging studies. Those in the study may also receive injections of a drug to prevent the growth of new blood vessels in the eye. Title: Pilot Study of the Evaluation of Intravitreal Sirolimus in the Treatment of Bilateral Geographic Atrophy Associated with Age-Related Macular Degeneration Number: 11-EI-0249 Summary: Background: - Age-related macular degeneration (AMD) is a leading cause of blindness in older people. It affects the macula, the part of the retina needed for clear vision. An advanced form of AMD, called geographic atrophy (GA), may be partly caused by inflammation. Sirolimus is a drug that can help prevent inflammation. Researchers want to see if sirolimus can help prevent vision loss in people with GA. Objectives: - To determine if sirolimus can help prevent vision loss in people with geographic atrophy. Design: - This study requires at least 15 visits to the National Eye Institute over 2 years. Study visits will be every 2 months for 2 years. - Participants will be screened with a medical history and physical exam. They will also have blood and urine tests, and eye exams. One eye will be selected as the study eye to receive the study drug. - Participants will have a sirolimus injection into the study eye. There will be a followup exam 1 month later, with an eye exam but no injection. - Participants will have regular visits with eye exams and injections for 2 years. - Two months after the final injection, participants will have a final clinic visit with an eye exam. Title: Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best Disease, Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) Patients Number: 11-EI-0245 Summary: Background: - Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers. Objectives: - To collect hair, skin, and blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Design: - The study requires one visit to the National Eye Institute. - Participants will be screened with a medical and eye disease history. They will also have an eye exam. - Participants will provide a hair sample, a blood sample, and a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm. Title: A Pilot Phase I/II Study for the Evaluation of Dextromethorphan as a Microglia Inhibitor in the Treatment of Diabetic Macular Edema (MiDME2) Number: 11-EI-0244 Summary: Background: - Many people with diabetes have macular edema (swelling) at the back of the eye. Macular edema can cause loss of vision. Studies suggest that inflammation may be involved in the swelling. A drug called dextromethorphan may help prevent the inflammation and the swelling. Dextromethorphan is approved for use as a cough medicine, but it has not been studied to see if it can help in diabetic macular edema. Objectives: - To see if dextromethorphan can help treat diabetic macular edema. Design: - This study lasts 2 years, and will require at least 14 visits to the National Eye Institute outpatient clinic. Study visits will be every month for the first 2 months and then every other month. Each visit will take about 2 to 4 hours. - Participants will be screened with a physical exam, medical history, eye exam, and blood tests. One eye with macular edema will be chosen as the study eye for testing. - Participants will take dextromethorphan twice a day, about 12 hours apart, for 2 years. A study diary will help keep track of the date, time, and number of pills taken. - Participants will have study visits once a month for the first 2 months and then every other month for the rest of the study. Each study visit will involve eye exams and blood and urine tests. - Four months after starting the study medication, participants may have laser surgery or other treatments for the macular edema, if it is needed. Title: The Natural History of Ocular Graft-Versus Host Disease Number: 11-EI-0173 Summary: Background: - Stem cell transplantation (SCT) is used to treat some kinds of cancer, blood cell disorders, and immune disorders. Stem cells from a donor's blood are used to replace the recipient's stem cells in the bone marrow. The recipient's bone marrow can then produce new blood cells. Some of these new cells involved in the immune system are like the donor's cells. Sometimes immune cells from the SCT attack the recipient's normal tissues, including the eyes. This type of immune attack is called graft-versus-host disease, or GVHD. -The symptoms of ocular GVHD include eye pain, irritation, dryness, and inflammation. When it is severe and if it does not respond well to treatment, ocular GVHD may also cause vision loss. Objective: - To learn more about graft-versus-host disease (GVHD) of the eyes in people who have had stem cell transplantation. Design: -The study lasts for 1 year and includes six visits to the National Eye Institute. (There is an optional visit about 1 month before your SCT.) When possible, visits for this study will be scheduled so that they can be done on the same day as your visits for the NCI or NHLBI protocol that you are taking part in. -At each visit, participants will have a medical exam and an eye history will be taken. They will have an eye exam and a test to measure the ability to make tears. Those in the study will also have tear fluid collected for analysis in a lab. Tear fluid collection is a painless process. Blood will be drawn during certain visits if it has not already been collected by the transplant team. Title: The Treatment of Macular Edema Secondary to Uveitis using Topical Interferon Gamma Number: 11-EI-0167 Summary: Background: - Uveitis is a serious eye condition in which the immune system attacks the eye and can cause vision loss. A common problem related to uveitis is macular edema. This is a swelling of the central part of the retina. This part of the retina is needed for sharp, clear vision. This swelling can lead to more vision loss. - Interferon gamma-1b is a lab-created protein that acts like the material made by the white blood cells that help fight infection. It changes the way the immune system reacts to the cells in the eye and may help to lessen the swelling in the back of the eye. It has been used as an injection to treat other immune diseases, but it has not been tested as an eye drop for use in uveitis other than a safety trial done at NIH in 2010. Objectives: - To test the effectiveness of interferon gamma eye drops to treat macular edema caused by uveitis. Design: - This study requires three visits to the study clinic over about 2 weeks. Each visit will last 1 to 2 hours. - Participants will be screened with a physical exam, medical history, and a full eye exam. One eye will be designated as the study eye. - Participants will place eye drops in the study eye four times a day for 1 week. - At the second study visit (after 1 week), participants will have an eye exam and a physical exam, and will return the eye drops. - Participants will have a final study visit 1 week after the second visit, with a final eye exam. Title: Longitudinal Investigation of Dark Adaptation in Participants with Age-Related Macular Degeneration Number: 11-EI-0147 Summary: Background: - Age-related macular degeneration (AMD) is a leading cause of vision loss in individuals over 55 years of age. It can cause permanent loss of central vision, which is important for seeing fine details and long distances. AMD has two forms: wet AMD and dry AMD. Most people with AMD have dry AMD. But dry AMD can progress to wet AMD. Wet AMD is the more serious form and can result in severe vision loss. - A method to identify and monitor the early to middle stages of AMD may help researchers develop new treatments to stop the disease before it becomes severe. In early dry AMD, people cannot see well at night. Researchers want to study whether a procedure that measures how the eye adjusts to the dark can help to identify and monitor early to middle dry AMD. Objectives: - To evaluate the effectiveness of using a dark adaptation protocol to identify and monitor early to middle dry age-related macular degeneration. Design: - People will be screened with a physical examination, medical history, blood and urine tests, and a full eye exam. - This study will last 5 years and require at least 9 visits to NIH. (First visit; study visits at months 3, 6, 12, 18, and 24; and 3 yearly followup visits). -Up to 10 people will be asked to come back to the clinic 1 week after their first visit. They will be asked to test the device to be used in the study. - Participants will have baseline exams. These questions will be about problems that affect their eyes under different lighting conditions. - At every visit, participants will answer questions about general health and current medications (including any vitamins or supplements). They will also have a full eye exam and a 20- to 40-minute test. This test measures how fast the eyes recover in response to decreasing levels of light. The test also measures how sensitive the eyes are to these conditions. - Participants will continue to have these tests at the yearly followup examinations. They will be treated with the standard of care for any eye conditions they have or may develop during the study. Title: Home Vision Monitoring in AREDS2 for Progression to Neovascular AMD Using the Foresee Home Device Number: 11-EI-0124 Summary: Background: - In the wet form of age-related macular degeneration (AMD), new blood vessels grow and cause fluid leaks into the retina, which leads to loss of vision. Some studies suggest that if the development of new blood vessels (choroidal neovascularization, or CNV) is detected early, treatment could be started sooner, which may help prevent visual loss. One possible method of early detection is the ForeseeHome device, which is part of a program designed to allow individuals to monitor their eyes for vision changes at home. Researchers are interested in comparing eye disease progression in people using the ForeseeHome device with those not using the device. Objectives: - To determine if home monitoring of age-related macular degeneration using the ForeseeHome device can help detect progression of disease earlier than standard care. Design: - Participants will be screened with a physical examination, medical history, and eye examinations. Participants will also be introduced to the device in order to determine if they will be able to use it for the duration of the study. - Half of the study participants will receive the ForeseeHome device; the other half will have standard of care monitoring. Participants will be asked only to monitor the eye(s) that are at risk for progression to wet AMD. - Participants assigned to the device monitoring group will receive the ForeseeHome device, a personal monitor that has a head unit with a viewer and internal screen, and a modem connected to a telephone cord. This cord must be attached to a land telephone line so that it can send data to the sponsor. Set-up instructions will be included with the device. - Participants will use the ForeseeHome device daily by looking at a screen and identifying certain patterns presented on the screen. The test takes about 4 minutes for each eye at risk. Test results will be transmitted by the modem to the sponsor, and the results will be reviewed by trained personnel. If the testing suggests a change in eye condition, participants and their AREDS2 clinic site will be notified by telephone and asked to schedule an appointment for an examination within 3 days of the call. - Participants in the standard care group should continue to have regular clinic visits and the required AREDS2 study visits, and will monitor eye symptoms using the instructions provided by the eye doctor for identifying possible CNV. Participants should contact the AREDS2 clinic promptly and come to the clinic within 3 days of any changes in vision. - The ForeseeHome device will be returned (1) after progression to CNV of the eye at risk, (2) at the end of the study, or (3) if use of the device produces unreliable results such that monitoring with the device becomes unreliable. Title: Treatment of Non-infectious Panuveitis, Intermediate and Posterior Uveitis Associated Macular Edema with Intravitreal Methotrexate Number: 11-EI-0107 Summary: Background: - Uveitis comprises of a group of diseases associated with inflammation of the eye that can lead to vision loss. Some people with uveitis also have macular edema (swelling of the retina at the back of the eye). Uveitis and macular edema are treated with medications and sometimes surgery, but treatment does not always prevent vision loss. Previous research has shown that injections of methotrexate into the eye of people with eye disease other than uveitis can help relieve the inflammation, or swelling, that causes macular edema and can slow visual loss. However, it has not yet been approved as a treatment for macular edema associated with uveitis. Objectives: - To evaluate the safety and effectiveness of methotrexate injections as a treatment for macular edema associated with uveitis. Design: - This study requires at least nine visits to the National Eye Institute study clinic over a period of 6 months (24 weeks). - Participants will be screened with a full physical and ophthalmic examination, a medical history, blood and urine tests, and additional eye and other tests as needed. - Participants will receive a methotrexate injection in a selected treatment eye. After the injection, participants will receive antibiotic eye drops to place in the eye three times a day for the 3 days following the injection, leucovorin (folic acid) drops to place in the eye four times a day for 1 week following the injection, and a dose of folic acid to be taken by mouth the day after the injection. - Participants who tolerate the initial injection may continue to receive injections in their study eye every month for 6 months. After 6 months, participants who show improvement from the injections may be evaluated to receive additional injections every 4 to 8 weeks until researchers end the study. Title: A Phase I Unmasked Study to Investigate the Safety and Tolerability of Subconjunctival Injections of Palomid 529 in Patients with Neovascular Age-Related Macular Degeneration Number: 11-EI-0066 Summary: Background: - Wet age-related macular degeneration (AMD) occurs when abnormal blood vessels grow in the back of the eye, and leak blood and other fluids that damage the eye, produce scarring, and lead to blindness. People diagnosed with wet AMD have increased production of a body chemical called vascular endothelial growth factor (VEGF). VEGF is important in the formation of blood vessels in the body, and decreasing the production of VEGF is believed to help wet AMD patients by preventing or slowing the growth of the abnormal blood vessels. Anti-VEGF drugs have been used to decrease the production of VEGF, but some people do not respond completely to these drugs. - A protein in the body called mTOR also plays a critical role in regulating how cells divide and grow and obtain their blood supply. The experimental chemical Palomid 529 inhibits the production of mTOR. Researchers are interested in determining whether Palomid 529 is safe and can help individuals with wet AMD who have not completely responded to anti-VEGF treatments. Objectives: - To evaluate the safety and effectiveness of Palomid 529 as a treatment for wet age-related macular degeneration in individuals who have not responded to standard anti-VEGF treatments. Design: - Prior to the first visit, participants should have been seen at the National Eye Institute clinic under a screening or teaching protocol, or NIH protocol 08-EI-0103, High Speed Indocyanine Green Angiography Findings in Induction Regimen of Intravitreal Ranibizumab Injection for Neovascular Age Related Macular Degeneration. One eye will be designated as the study eye to receive the Palomid 529 treatment. - Participants will have a full physical examination and medical history, a full eye examination to evaluate eye health and vision, angiography to examine the blood vessels in the eyes, and blood and urine tests during the study - Participants will receive an injection of Palomid 529 into the study eye every 4 weeks during the study, for a total of three injections. Participants may also receive anti-VEGF injections such as ranibizumab (Lucentis(Registered Trademark)) or bevacizumab (Avastin(Registered Trademark)) in the study eye 12 days before and 12 days after the Palomid 529 injection. - Participants may have standard-of-care treatments for the non-study eye if it has wet AMD as well, but may not receive experimental treatments in the non-study eye while they are in this study. - Participants will return for long-term follow-up examinations as directed by the study researchers. Title: Peptide B27PD (Optiquel) as Corticosteroid-Sparing Therapy for Chronic Non-Infectious Autoimmune Uveitis (BOOTS) Number: 10-EI-0191 Summary: Background: - Uveitis is a serious inflammatory condition in which the body's immune system attacks parts of the eye, often causing vision loss. Uveitis treatments involve various drugs that suppress the immune system, but these medicines sometimes do not work or may cause serious side effects. Researchers are interested in developing new treatments for uveitis that are more effective and have fewer side effects. - Optiquel(Trademark) is a natural product. It is an experimental medication being tested for its effectiveness again uveitis. It contains B27PD, a small protein fragment, which is similar to proteins in the parts of the eye being attacked by the immune system. Taking B27PD by mouth may induce oral tolerance, in which the immune system is taught to recognize and not attack normal parts of the human body. Objectives: - To evaluate the safety and effectiveness of B27PD (Optiquel(Trademark)) as a treatment for uveitis. Design: - Participants will be screened with a physical examination, medical history, blood and urine tests, and an eye exam. - This study will last 52 weeks, with at least 17 study visits. - Participants will be divided into three groups, and will randomly be selected to receive one of two different doses of B27PD or a placebo. During the study, participants will also have their dose of prednisone or other steroid medication reduced. - Participants will take one pill three times per week on Monday, Wednesday, and Friday, for a total of 26 weeks. The pill should be taken in the morning (at least 4 hours after eating and at least 30 minutes before eating). Participants may take the pill with water, but should not consume any other beverages or any kind of food until at least 30 minutes have passed to prevent stomach upset. The pills should be stored in the refrigerator. - During the first 12 weeks of the study, participants will have a study visit every 2 weeks. For the remainder of the study, participants will have a study visit every 4 weeks. Participants will have frequent blood and urine tests, and will also have eye examinations and special procedures (fluorescein angiography and indocyanine green angiography) to evaluate the effectiveness of the treatment. Title: Microplasmin Intravitreal Administration in Participants with Uveitic Macular Edema Number: 10-EI-0186 Summary: Background: - Uveitis is a serious inflammatory condition in which the body's immune system attacks parts of the eye, often causing vision loss. Some people with uveitis also have macular edema (swelling of the retina at the back of the eye). Uveitis and macular edema are treated with medications and sometimes surgery, but in many people treatment does not prevent vision loss. - Research has shown that injection of the lab-made protein microplasmin into the eye of people with eye disease other than uveitis can help treat macular edema and can slow visual loss. Microplasmin has not been approved to treat uveitis; however, researchers are interested in determining if it can be a safe and effective treatment for macular edema related to uveitis. Objectives: - To investigate the safety, tolerability and potential efficacy of an intravitreal injection of microplasmin as a possible treatment for macular edema secondary to uveitis. Design: - Participants will be screened with a physical examination, medical history, blood and urine tests, and an eye exam. - The study will last 6 months, and will require eight visits to the National Eye Institute outpatient clinic. Each visit will take about 3 to 4 hours. - At the first study visit, participants will have a complete physical and eye examination, medical history, blood tests, and two eye imaging studies (B-scan ultrasound and fluorescein angiography). After the tests are complete, participants will receive an injection of microplasmin directly into the eye. Participants will be given antibiotic eye drops to use three times a day for 3 days following the injection. - Participants will have regular follow-up visits for 6 months to evaluate the results of the microplasmin injection. These visits will include complete physical and eye examination, blood tests, and eye imaging studies (B-scan ultrasound and fluorescein angiography). Title: Evaluation of Single Nucleotide Polymorphisms (SNPs) in Patients with and without Diabetic Macular Edema Number: 10-EI-0169 Summary: Background: - Diabetic macular edema (DME) is a common condition in people with diabetes. DME occurs when blood vessels in the eye leak fluid, resulting in swelling inside the back of the eye and progressive vision loss. Research has shown that good blood sugar control can reduce the risk and severity of DME. However, not all diabetic patients with poor blood sugar control develop DME, and some patients develop DME despite excellent blood sugar control. This suggests that other factors, such as genes or inherited traits, may predispose or protect a diabetic patient from developing DME. Objectives: - To investigate genetic factors that may influence the development of diabetic macular edema. Design: - The study will require one visit to the National Institutes of Health eye clinic. - Participants will be screened with a medical history and basic eye examination. Individuals who have certain eye diseases other than DME may not be allowed to enroll in the study. - Participants will provide a blood sample, and will receive fluorescein angiography (an injection of fluorescein dye, after which a camera will take pictures of the dye as it flows through the blood vessels in the eye). - No treatment will be provided as part of this protocol. Title: Genotype-Phenotype Study of Patients with Plaquenil(Registered Trademark)-Induced Retinal Toxicity, with Evaluation of the ABCA4 Gene Number: 10-EI-0140 Summary: Background: - Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person's genes explain why some people develop plaquenil-induced retinal toxicity while others do not. Objectives: - To investigate possible correlations between certain genes or genetic mutations and plaquenil-induced retinal toxicity. Design: - The study requires one or two visits to the National Eye Institute or an outpatient study clinic over a maximum 2-year period. - Participants will provide a personal and family medical history, and will have a full eye examination. - Participants will also provide blood samples for testing. - No treatment will be provided as part of this protocol. Title: A Pilot Study for the Evaluation of Minocycline as a Microglia Inhibitor in the Treatment of Diabetic Macular Edema Number: 10-EI-0098 Summary: Background: - Diabetic retinopathy, or damage to the small blood vessels at the back of the eye, is a frequent complication of diabetes, and is a leading cause of blindness. Diabetic retinopathy can lead to swelling within the eye, known as diabetic macular edema which causes vision loss. - Chronic inflammation has been implicated in diabetic macular edema. Microglia are cells in the retina involved in inflammation in the retina. For these reasons, microglia represent a promising cellular target for forms of therapy that limit the harmful inflammatory changes found in diabetic retinopathy. Minocycline, a drug that is currently approved for use as an antibiotic, may be able to inhibit microglia and thus reduce their contribution to chronic inflammation. Researchers are interested in examining whether minocycline may be used to treat or slow the progress of diabetic macular edema. Objectives: - To test the safety and effectiveness of minocycline as a treatment for diabetic macular edema. Design: - This study will last 2 years and require at least 14 visits to the National Eye Institute outpatient clinic. Study visits will be every month for the first 2 months and then every other month. Each visit will take about 2 to 4 hours. - Participants will take minocycline tablets twice daily for 24 months. - During each study visit, participants will have full eye examinations to measure visual activity, retinal thickness, and blood flow to the eye. Participants will also have regular blood tests, including blood sugar tests. - Patients enrolled will have been previously treated with focal laser, or not amenable to focal laser treatment. At the Month 6, Month 12 and Month 18 visits, participants will be offered laser treatment if they are eligible, unless they have shown significant improvement in retinal thickness or visual acuity. - After the end of the study, follow-up care will be arranged with an outside ophthalmologist. Title: Immunogenetic Mechanisms in Behcet's Disease Number: 10-EI-0093 Summary: Background: - Uveitis, the inflammation of the interior of the eye, is responsible for numerous new cases of legal blindness every year. Uveitis can be caused by Beh et's disease (BD), a chronic inflammatory disorder that can affect the eye, mucous membranes, and other body organs such as the joints, intestinal tract, blood vessels, and central nervous system. Objectives: The purpose of this study is to see how genes affect Beh et's disease and if there are differences in Beh et's disease among people of different backgrounds. Design: - As part of the study, blood samples will be drawn from participants when an exacerbation in disease activity occurs and before and after any significant change in treatment for BD. - No treatments will be provided in this study. Title: Rituximab for Autoimmune Retinopathy Number: 10-EI-0040 Summary: Background: - Autoimmune retinopathy (AIR) is an inflammatory condition in which the patient's own immune system is attacking his or her eyes and causing vision loss. Patients with AIR are generally treated with immunosuppressive agents to treat the eye inflammation; however, the standard treatment for this disease is still being developed. - Rituximab, an immunosuppressive agent, is a monoclonal antibody that is directed against a part of the immune system that may be an important cause of AIR. Rituximab is approved for the treatment of non-Hodgkin's lymphoma and rheumatoid arthritis, but is not approved for the treatment of AIR. Researchers are interested in determining whether rituximab may be used to treat AIR. Objectives: - To to investigate the safety, tolerability and possible efficacy of rituximab as a treatment for AIR. Design: - Before the start of the study, participants will be screened with a medical history, immunization records, a series of eye examinations, a chest X-ray, an electrocardiogram, and blood tests. - Participants will receive a maximum of two cycles of rituximab during the 18-month study. Each cycle will involve two separate intravenous infusions of rituximab given 2 weeks apart. - Participants will return to the clinic 6 weeks after the first cycle of rituximab for a safety visit, which will include a routine eye and physical examinations. They will also provide blood and other samples for study. - After the safety visit, participants will return every 3 months for follow-up visits. - At the 6-month visit, participants who have successfully or partially responded to rituximab will receive another cycle of treatment. Those who do not respond will not receive another cycle, but will continue to be monitored until the end of the study. Title: Internal Monitoring of Eye Movement in Schizophrenia Number: 10-EI-0016 Summary: Background: - Researchers are studying how humans are able to move our eyes to a remembered region even when the target has disappeared. The ability to do this suggests that the brain can keep track of where the eyes have looked, without an external target for continued reference. This is called corollary discharge. - Other research has indicated that patients with schizophrenia might have difficulty monitoring their eye movements. The corollary discharge process may be defective in patients with schizophrenia, and perhaps delayed in time. Researchers have developed a test to examine this possibility in the hope of learning more about schizophrenia and eye movement. Objectives: - To assess whether there is a defect in internal monitoring of eye movements in patients with schizophrenia. Design: - Researchers will check participants' vision in each eye, and ask them to sit at a machine that measures eye movement in order to complete research tasks. Researchers will monitor participants' ability to complete these tasks. - The first task involves simply following a target that jumps to different parts of the screen. - The second is a 2-step task, in which a participant is asked to look at two separate light targets and then look at the remembered target positions when the lights are off. - This protocol does not provide treatment. Participants will remain under the care of their own physicians during participation in this protocol. Title: Evaluation and Treatment Protocol for Potential Research Participants with Ocular Diseases Number: 08-EI-0169 Summary: This study will evaluate and provide standard treatments for people with various eye conditions. It will provide a resource for enrollment into new research protocols throughout the Eye Institute and will allow institute specialists the opportunity to maintain their expertise and gain additional knowledge of the course of various eye disorders. The information obtained will allow for the evaluation of standard treatments and may lead to ideas for future research. Title: High Speed Indocyanine Green Angiography Findings in Induction/PRN Regimen of Intravitreal Ranibizumab Injection for Neovascular Age-Related Macular Degeneration Number: 08-EI-0103 Summary: This study will use an eye imaging test called high speed indocyanine green angiography (HS-ICG), which examines leaky vessels in the eye, to try to find out why individuals respond differently to ranibizumab (Lucentis) treatment for wet age-related macular degeneration (AMD). The drug was recently approved by the Food and Drug Administration to treat this disease, but the response to the treatment varies markedly among individuals. Ranibizumab injections in the study eye once a month for 4 months. Additional injections are given only if the study eye shows signs of bleeding or leaking fluid. The eye is numbed before the injection and the eye area is cleaned with an antiseptic. Antibiotic drops are used for 3 days following the injection to prevent infection. Clinic visits once a month for 2 years for evaluations to monitor the response to treatment. The evaluations may include the following examinations and tests: -Eye examination with dilation, optical coherence tomography and photography: The examination measures visual acuity, thickness of your retina (the back of the eye) andeye pressure. Bright lights will also be used so that the doctor can see the back of your eye. Photographs of the eye may be taken. -Fluorescein angiography to examine the blood vessels in the eye: A dye called fluorescein is injected into a vein in the arm. The dye travels through the veins to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels. This test is done eight times during the study. -Indocyanine green angiography to examine the blood vessels in the eye: The procedure is the same as for fluorescein angiography, but it uses a dye called indocyanine green. This test is done once a month for the first year of the study and then every 3 months. Title: Screening Study for the Evaluation and Diagnosis of Potential Research Participants Number: 08-EI-0102 Summary: This study will allow National Eye Institute (NEI) doctors the opportunity to examine people with eye disease, whether the diagnosis is known or not, to determine if they are eligible for other NEI research studies. No treatment is offered in this study. Participants undergo various tests and procedures to diagnose or evaluate their eye disease. The procedures may include the following: -Personal and family medical history -Physical examination and blood tests, including genetic testing. -Eye examination with dilation to measure visual acuity and eye pressure and to examine the front and back parts of the eye. -Questionnaire about vision and daily activities. -Conjunctival swab or lacrimal bland biopsy, or both: A sample of cells from the eyes is collected by swabbing the surface of the eye or by surgically removing a small sample of the surface of the eye or tear gland. -Electroretinogram to examine retinal function: The subject sits in the dark with his or her eyes patched for 30 minutes. The patches are removed, the surface of the eyes is numbed, and contact lenses that can sense signals from the retina are placed on the eyes. The subject then watches flashing lights. -Fluorescein angiography to examine the blood vessels in the eye: A dye is injected into a vein in the arm. The dye travels through the veins to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels. -Optical coherence tomography to measure retinal thickness: A machine used to examine the eyes produces cross-sectional pictures of the retina. -Microperimetry to test how sensitive different parts of the retina are to changing levels of light. The subject sits in front of a computer and presses a button when he or she sees a light on the screen. -Oculography to record eye movements: Eye movements are measured by contact lenses or goggles that the subject wears while watching a series of spots on a computer screen. Title: Epigenetics, Molecular Genetics, and Biomarkers of Degenerative and Inflammatory Ocular Diseases Number: 08-EI-0099 Summary: This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person's genes function and communicate. Participants undergo the following tests and procedures: -Eye examination to assess visual acuity (eye chart test) and eye pressure, and to examine the pupils, lenses, retina and eye movements. Photographs of the inside of the eye may also be taken. The pupils are dilated with drops for this examination. -Blood draw for genetic testing. Participants may also undergo one or more of the following tests: -Optical coherence tomography. This is a type of photograph of the back of the eye to measure thickness of the retina. -Fluorescein angiography and indocyanine green angiography. Pictures of the eye's blood vessels are taken using either a fluorescein or indocyanine green dye. The dye is injected into a vein in an arm and travels to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels. -Electroretinogram (ERG) to measure retinal function. The patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small metal disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops, and contact lenses are placed on the eyes. The patient then watches flashing lights. The contact lenses sense small electrical signals generated by the retina when the light flashes. Title: Age-Related Eye Disease Study (AREDS) Follow-Up Number: 08-EI-0043 Summary: This study is a 5-year extension of the AREDS protocol, in which investigators followed the natural course of age-related macular degeneration (AMD) and cataracts. Participants have a complete eye examination once a year and are contacted at least once a year between visits to check on their status. The eye examination includes measurement of visual acuity (vision chart test) and examination of the inside of the eye after the pupils have been dilated with eye drops. Photographs of the inside of the eye may be taken using a special camera that flashes a bright light in the eye. A blood sample may be obtained to test for cholesterol level and genes related to inflammation. Title: Visual Motor Coordination Number: 08-EI-0031 Summary: Background: -The relation between eye movement and brain function is a subject of interest to the National Eye Institute. -By comparing eye movement in healthy volunteers to research conducted on patients who have difficulty moving their eyes, the National Eye Institute hopes to develop and improve diagnostic procedures for people with eye diseases. Objectives: -To study eye movement in 100 healthy adult and child volunteers. -To understand how individuals see visual patterns and how eye movement affects the ability to see. Design: -Participants will visit the National Eye Institute outpatient clinic for examination and testing. -Participants will be screened with a medical history and eye examination (including eye pressure and eye movement tests). -Participants with healthy eyes will participate in eye movement testing experiments: --One or more sessions lasting less than three hours each. --Eye movements will be recorded with either a special contact lens or a video/infrared camera system. --For the majority of the studies done under this protocol, only one or two sessions will be required. A few studies recording very small eye movements will require three or more sessions. Title: Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome and Premature Ovarian Failure Number: 07-EI-0145 Summary: Women with premature ovarian failure (POF) are at risk for dry eye. In addition, some women with Turner syndrome (TS) report dry eye symptoms. This study will determine how many women with TS have dry eye, compared to women with POF and women without these conditions. -Medical history: Subjects are asked about their current and previous medical conditions and treatments they have had in the past. They complete forms with information about how their eyes feel and if dry eye has bothered them. -Assessment of tears and eye surface: The amount of tears the eyes can produce is measured by placing a small piece of sterile paper in the corner of the eye for 5 minutes. Orange and green dyes are also placed in the eyes to determine the health of the surface of the eye. -Eye examination: Visual acuity (the ability to see the vision chart) and eye pressure (fluid pressure in the eye) are measured. Pupils and eye movements are examined. The structures inside the eye are examined through a microscope. The lens and retina (back of the eye) are examined after drops have been placed in the eyes to widen the pupils. The retina is examined with an ophthalmoscope (instrument with a strong light and magnifying lens). -Blood drawing: Blood samples are drawn through a needle in the arm to test for the level of sex hormones. -Conjunctival swab and tear fluid collection: A small sample of tears may be collected in a small tube to study their consistency and makeup. The top layer of cells from the surface of one eye may be removed with a swab or filter paper for study. Title: National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases Number: 06-EI-0236 Summary: This study will collect blood and DNA samples from patients with inherited eye diseases to be used in research to identify genetic factors responsible for these conditions. In recent years, nearly 500 genes that contribute to inherited eye diseases have been identified. Disease-causing mutations are associated with many eye diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable. The National Ophthalmic Genotyping Network (eyeGENE(Trademark)) is creating a national tissue repository to further advance genetic research on inherited eye disease, while at the same time providing clinically-useful information back to patients and physicians who request it.. Physicians in collaborating institutions will recruit patients to participate in the study. Patients will provide a blood sample and undergo a standard eye examination. The blood sample and clinical information will then be sent to the NEI for testing, processing and storing in the tissue repository. Patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. Information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. The stored samples will be made available to researchers along with information about the patient's disease, but without patient identifiers. Title: Family Studies of Uveal Coloboma Number: 06-EI-0230 Summary: This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated. To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission. Title: The Vitreous Proteome and Inflammatory Mediators in Ocular Inflammatory Disease Number: 06-EI-0068 Summary: This study will examine the proteins of people with uveitis, or inflammation of the eyes. Evaluating the vitreous, the colorless transparent substance that fills the eyeball in back of the lens, is now possible with the use of new microtechnology. There is an opportunity to evaluate the kinds of proteins that are present in severe, noninfectious sight-threatening uveitis. Researchers will study the vitreous that will be removed from patients' eyes during an operation to insert a steroid implant. The steroid implant is used instead of immunosuppressive therapy, a way to reduce the action of the immune system. Patients will undergo a procedure involving a small hole made in the eye into which the implant is placed. Normally a small amount of the vitreous comes out during that procedure, and in this study, the vitreous specimen will be taken for testing of inflammatory products. At the same time, a small sample of blood, about 1-1/2 tablespoons, will be collected so that the researchers can compare inflammatory products that may be in the blood with those in the vitreous. If a patient needs to have the implant placed again during the study, he or she would be asked permission for collection of the vitreous and blood samples, as previously. Samples collected will not be used to diagnose patients' conditions or to change any treatments being done. All samples will be labeled with special code numbers so that there is no identifying information about patients. This study will not involve examinations or scheduled visits of patients. Title: Clinical and Molecular Studies in Families with Glaucoma and Related Diseases Number: 06-EI-0059 Summary: This study will document the clinical and genetic features of glaucoma and related diseases, including normal tension glaucoma (NTG). Researchers would like to define genetic influences and eventually isolate the genes causing those diseases. Glaucoma is an important cause of vision loss in the United States and worldwide. The disease is marked by a wearing down of the retina and optic nerve, often associated with increased pressure in the eye. It is often an inherited trait. This study will involve between 250 and 2,000 patients over a 5-year period. It wil