Singh Bhupesh, Mohamed Ashik, Chaurasia Sunita, Ramappa Muralidhar, Mandal Anil Kumar, Jalali Subhadra, Sangwan Virender S
J Pediatr Ophthalmol Strabismus. 2014 Jan-Feb;51(1):59-62. doi: 10.3928/01913913-20131223-01. Epub 2014 Jan 3.
To study the various clinical manifestations associated with congenital aniridia in an Indian population.
In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated systemic and ocular manifestations were studied.
The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had parents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hypoplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm's tumor.
Congenital aniridia was commonly associated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glaucoma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management.
研究印度人群中与先天性无虹膜相关的各种临床表现。
在这个回顾性、连续性、观察性病例系列研究中，对2005年1月至2010年12月期间在该研究所确诊为先天性无虹膜的所有患者进行了回顾。对所有患者的人口统计学特征、视力以及相关的全身和眼部表现进行了研究。
该研究纳入了131例先天性无虹膜患者的262只眼。初次就诊时患者的中位年龄为8岁（范围：1天至73岁）。大多数病例为散发性，且所有患者的父母均无先天性无虹膜。最常见的前段异常为晶状体改变。白内障是主要的晶状体表现，在231只具有晶状体的眼中，有93只（40.3%）观察到白内障。其他晶状体异常包括晶状体半脱位、缺损、后圆锥晶状体和小球形晶状体。262只眼中有157只（59.9%）出现不同程度的角膜受累，262只眼中有95只（36.3%）被诊断为青光眼，262只眼中有230只（87.7%）可评估为黄斑发育不全。发现青光眼和白内障的中位年龄分别为7岁和14岁。所有患者均未患威尔姆斯瘤。
先天性无虹膜通常与经典描述的眼部特征相关。然而，该人群中典型地不存在全身相关性。值得注意的是，白内障和青光眼在早年即可出现。这就需要对这些患者进行仔细评估和定期随访，以便及时识别并进行适当管理。
