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[Congenital aniridia and cataract]

C Stefan¹, C Niculescu

¹Secţia de Oftalmologie, Spitalul Militar Central Bucureşti.

Oftalmologia (Bucharest, Romania : 1990)

|April 1, 1994

Summary

A rare genetic mutation caused partial zonular fiber loss, leading to congenital cataracts and aniridia in a pediatric patient. Surgical intervention improved visual acuity, highlighting a unique case of inherited eye anomalies.

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Area of Science:

Ophthalmology
Genetics
Pediatric Medicine

Background:

A 12-year-old presented with congenital aniridia, cataract, and nystagmus.
The patient exhibited significant visual impairment, particularly in the right eye, due to progressive zonular cataract.

Observation:

Congenital aniridia, cataract, and nystagmus were diagnosed.
Visual acuity in the right eye was severely limited to hand movement perception.

Findings:

Intracapsular lens removal and hyaloid-capsular ligament resection in the right eye.
Post-operative visual acuity improved to 1/6 with corrective lenses.

Implications:

This case highlights the infrequent occurrence of genetic mutations leading to partial zonular fiber deficiency.
Early surgical management can significantly improve visual function in pediatric patients with complex inherited eye conditions.

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