Color Vision in Inherited Retinal Degenerations
遗传性视网膜变性中的色觉
基本信息
- 批准号:9155612
- 负责人:
- 金额:$ 9.4万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:
- 资助国家:美国
- 起止时间:至
- 项目状态:未结题
- 来源:
- 关键词:6 year oldAffectAgeAge-YearsAreaAutosomal Dominant Optic AtrophyCellsCentral ScotomasClinical TrialsColorColor VisionsComputer softwareConeCuesCustomDiscriminationDiseaseFutureGenesGoalsMeasuresMethodsMorphologic artifactsNatural HistoryNormal RangePatientsPhotoreceptorsProtocols documentationResearchRetinaRetinalRetinal DiseasesRetinitis PigmentosaSeveritiesSeverity of illnessStargardt&aposs diseaseStructureSystemTestingThickTimeVision ScreeningVisual AcuityVisual impairmentWritingachromatopsiabasecomputerizeddyschromatopsiahealthy volunteerinherited retinal degenerationprospectivesample fixationsmall moleculesystems researchtool
项目摘要
Inherited retinal degenerations (IRDs) are a major cause of severe visual impairment worldwide. Promising treatments for these diseases include gene-based, cell-based, and small molecule therapies. A hurdle to initiating clinical trials for IRDs is the lack of prospective natural history studies that have provided quantitative descriptions of changes in retinal structure and function over time. The long-term goal of our research is to develop quantitative methods for describing changes in retinal structure and function in IRDs and to use these methods in future prospective natural history studies and clinical trials for IRDs.
Dyschromatopsia is common to all IRDs affecting the central retina. Color vision screening tests are poorly suited to quantitating the severity of dyschromatopsia in IRD. The Cambridge Color Test (CCT) is a commercial computerized system that provides detailed quantitative analysis of color vision. A low vision version of the CCT (LvCCT) was previously used to quantify changes in color vision in low vision patients with dominant optic atrophy (Simunovic M et al Vis Res 1998). Many IRD subjects have reduced visual acuity and central scotoma so we implemented the LvCCT on a ViSaGe System (Cambridge Research Systems Ltd. U.K.) using custom-written software.
The Aims of this protocol were to:
Specific Aim 1: Examine the sensitivity of the CCT and LvCCT to disease severity in IRD patients by comparing color vision status with changes in retinal structure and function.
The LvCCT has proven to be an extremely useful tool to quantitate dyschromatopsia in patients with inherited retinal degeneration including those with extremely poor visual acuity down to 20/800. The test is conceptually simple and we have been able to quantitate color vision in healthy volunteers and IRD patients as young as 5-6 years of age. Quantitative changes in color vision measured with the LvCCT correlate with acuity, central retinal thickness and the cycle x cycle ERG in RP subjects. In patients with cone-rod dystrophies, including Stargardt disease, all patients with 20/160 or worse acuity had severe dyschromatopsia. For visual acuity of 20/125 or better there was not clear correlation between acuity and the level of dyschromatopsia. The level of dyschromatopsia was correlated with and cone ERG amplitudes in cone-rod dystrophies. We have now used the LvCCT in a clinical trial with CNGB3 achromatopsia and in a large natural history study of ABCA4 retinopathy. The commercial version of the CCT test has proven to be extremely difficult for IRD patients.
Specific Aim 2: Examine the effects of eccentric fixation and reduction in visual acuity on the color discrimination thresholds obtained with the CCT and LvCCT.
In healthy volunteers, there is a monotonic increase in achromatic area (a measure of dyschromatopsia) with visual acuity. A maximum increase of about 40% in achromatic area occurred when visual acuity was blurred to 20/800. In contrast, for the commercial CCT test, archromatic area paradoxically decreased when acuity was blurred to between 20/200 to 20/400 acuity, and then dramatically increased at 20/800 acuity. These results suggest that the very large increases in achromatic area in IRD patients observed with the LvCCT cannot be explained in terms of reductions in visual acuity. Further, these results suggest presence of spatial artifacts that may provide erroneous cues when measuring color vision in low vision subjects.
Specific Aim 3: Establish normal ranges for the CCT and LvCCT and determine the inter-session and intra-session variabilities for these two tests.
We have established normal ranges for both the CCT and LvCCT from 22 healthy volunteers between 5 and 66 years of age; we found no change in color discrimination over this age range. Intra-session variability of both CCT and LvCCT have been established for healthy volunteers. In the upcoming year we plan to establish intra-session variability for IRD patients and inter-session variabilities for both healthy volunteers and IRD patients
遗传性视网膜变性是世界范围内严重视力障碍的主要原因。这些疾病的有希望的治疗方法包括基于基因的、基于细胞的和小分子的治疗。启动IRDS临床试验的一个障碍是缺乏前瞻性的自然历史研究,这些研究提供了对视网膜结构和功能随时间变化的定量描述。我们研究的长期目标是开发定量方法来描述IRD的视网膜结构和功能的变化,并将这些方法用于未来IRD的前瞻性自然历史研究和临床试验。
色觉障碍是所有影响中央视网膜的IRD的常见症状。色觉筛查试验不适合量化IRD患者色觉障碍的严重程度。剑桥色彩测试(CCT)是一种商业计算机化系统,提供详细的颜色视觉定量分析。低视力版本的CCT(LvCCT)以前被用来量化显性视神经萎缩的低视力患者的色觉变化(Simunovic M等人Vis Res 1998)。许多IRD受试者视力下降和中央暗点,因此我们在面部系统(英国剑桥研究系统有限公司)上实施了LvCCT。使用定制编写的软件。
该议定书的目的是:
具体目标1:通过比较IRD患者的色觉状态与视网膜结构和功能的变化,检查CCT和LvCCT对IRD患者病情严重程度的敏感性。
LvCCT已被证明是一种非常有用的工具,可以对遗传性视网膜变性患者的色觉障碍进行量化,包括那些视力极低至20/800的患者。这项测试从概念上来说很简单,我们已经能够量化健康志愿者和5-6岁IRD患者的色觉。在RP受试者中,用LvCCT测量的色觉的定量变化与视力、中央视网膜厚度和周期x周期ERG相关。在包括Stargardt病在内的视锥-视杆细胞营养不良的患者中,所有视力在20/160或更低的患者都有严重的色觉障碍。视力在20/125或更高时,视力与色觉障碍程度无明显相关性。视锥视杆细胞营养不良患者的色觉障碍程度与视锥ERG波幅相关。我们现在已经将LvCCT用于CNGB3色视的临床试验和ABCA4视网膜病变的大型自然病史研究。事实证明,商业版本的CCT测试对IRD患者来说极其困难。
具体目标2:检测偏心注视和视力下降对CCT和LvCCT获得的颜色辨别阈值的影响。
在健康志愿者中,视觉敏锐度的非色差区域(色觉障碍的衡量标准)单调增加。当视力模糊到20/800时,非色差区最大增加约40%。相比之下,在商业CCT测试中,当视力模糊到20/200到20/400之间时,弓根面积矛盾地减少,然后在20/800视力时显著增加。这些结果表明,用LvCCT观察到的IRD患者非色差区域的非常大的增加不能用视力下降来解释。此外,这些结果表明,当测量低视力受试者的色觉时,空间伪影的存在可能会提供错误的线索。
具体目标3:建立CCT和LvCCT的正常范围,并确定这两项测试的会话间和会话内变量。
我们已经建立了22名健康志愿者的CCT和LvCCT的正常范围,年龄在5到66岁之间;我们发现在这个年龄范围内没有颜色辨别的变化。已为健康志愿者建立了CCT和LvCCT的会话内变异性。在接下来的一年里,我们计划为IRD患者建立会话间变量,并为健康志愿者和IRD患者建立会话间变量
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
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Brett Jeffrey其他文献
Brett Jeffrey的其他文献
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{{ truncateString('Brett Jeffrey', 18)}}的其他基金
Rod and Cone Mediated Function in Retinal Disease
视杆细胞和视锥细胞在视网膜疾病中介导的功能
- 批准号:
10246743 - 财政年份:
- 资助金额:
$ 9.4万 - 项目类别:
Rod and Cone Mediated Function in Retinal Disease
视杆细胞和视锥细胞在视网膜疾病中介导的功能
- 批准号:
10930530 - 财政年份:
- 资助金额:
$ 9.4万 - 项目类别:
An Observational Cross-Sectional Study of Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease
视网膜疾病功能性视觉虚拟现实移动性评估的观察横断面研究
- 批准号:
10706149 - 财政年份:
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$ 9.4万 - 项目类别:
Rod and Cone Mediated Function in Retinal Disease
视杆细胞和视锥细胞在视网膜疾病中介导的功能
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9555713 - 财政年份:
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ELOVL4 突变继发的 Stargardt 样黄斑营养不良 (STDG3) 的观察性前瞻性自然史研究
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10706152 - 财政年份:
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