Clinical manifestations of congenital aniridia.

[aniridia]

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 .

Diseases
Validation

Diseases presenting "aniridia" symptom

aniridia

kabuki syndrome

oculocutaneous albinism

This symptom has already been validated