Ocular and systemic findings in a survey of aniridia subjects
Ocular and systemic findings in a survey of aniridia subjects
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DOI：
10.1016/j.jaapos.2011.07.009
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发表时间：
2011-12-01
期刊：
影响因子：
1.6
通讯作者：
Lauderdale, James D.
中科院分区：
文献类型：
--
作者：
Netland, Peter A.;Scott, Michele L.;Lauderdale, James D.
目的：了解无虹膜患者眼部及全身异常的发生率。方法：在2010年AFT成员会议之前，由anridia基金会国际开发的调查表格被发送给所有成员。另外还提供了一份表格，供照顾病人的医生填写。然后向所有出席会议的成员收集表格。结果共发放问卷155份，完成问卷83份（53%）。平均年龄25.4±18.4岁，散发性病例65%，家族性病例35%，2.4%为WAGR （Wilms肿瘤、无肾、泌尿生殖系统异常和智力低下）综合征。眼部异常包括眼球震颤（83%）、白内障（71%）、干眼（53%）、青光眼（46%）、角膜病变（45%）、中央凹发育不全（41%）、斜视（31%）和视网膜疾病（5%）。诊断无虹膜的平均年龄为22.1个月（中位为1.5个月），青光眼的平均年龄为13.6岁（中位为8.5岁）。38例无虹膜和青光眼患者中，76%接受药物治疗，58%接受手术治疗。青光眼患者使用青光眼药物的平均次数（+/- SD）为1.8 +/- 1.3次，手术次数为1.7 +/- 2.0次。17%的人报告发育迟缓。无虹膜患者的平均体重指数和肥胖患病率显著高于无虹膜患者（P = 0.003）。结论：在这项研究中，无虹膜与眼球震颤和其他运动问题、白内障、青光眼和角膜病变有关。全身性异常包括平均体重指数增加和肥胖，这似乎不仅发生在WAGR综合征中，而且更广泛地发生在无虹膜中。（j aapos 2011;15:562-566）
PURPOSE To determine the prevalence of ocular and systemic abnormalities in a group of subjects with aniridia.METHODS Survey forms developed by Aniridia Foundation International were sent to all members prior to the 2010 AFT member conference. An additional form was provided for completion by physicians caring for patients. Forms were then collected from all members who attended the meeting.RESULTS A total of 155 surveys were distributed, of which 83(53%) were completed. The mean age was 25.4 +/- 18.4 years, with 65% sporadic and 35% familial cases, and 2.4% with WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. Ocular abnormalities included nystagmus (83%), cataract (71%), dry eye (53%), glaucoma (46%), keratopathy (45%), foveal hypoplasia (41%), strabismus (31%), and retinal disease (5%). The mean age at diagnosis of aniridia was 22.1 months (median, 1.5 months) and glaucoma was 13.6 years (median, 8.5 years). Of 38 subjects with aniridia and glaucoma, 76% were treated medically, and 58% had been treated surgically. In subjects with glaucoma, the mean number (+/- SD) of glaucoma medications was 1.8 +/- 1.3, and number of surgical procedures was 1.7 +/- 2.0. Developmental delay was reported in 17%. The mean body mass index and the prevalence of obesity in subjects with aniridia was significandy greater (P = 0.003) than in siblings without aniridia.CONCLUSIONS In this study, aniridia was associated with nystagmus and other motility problems, cataract, glaucoma, and keratopathy. Systemic abnormalities included increased average body mass index and obesity, which appeared to occur not only in WAGR syndrome but more broadly in aniridia. (J AAPOS 2011;15:562-566)