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[Bilateral congenital aniridia: 5 case reports]
M Laghmari1, N Boutimzine, A K Abdelouahed
1Service d'Ophtalmologie A, Hôpital des Spécialités, Rabat, Maroc.
Journal Francais D'Ophtalmologie
|June 3, 2004
Summary
Congenital aniridia, a genetic disorder, affects multiple eye structures and can present with varied ocular issues. This family
Area of Science:
- Ophthalmology
- Genetics
- Medical Genetics
Background:
- Aniridia is a rare genetic disorder impacting ocular structures like the iris, cornea, lens, and optic nerve.
- It can be associated with systemic abnormalities, including urogenital malignancies.
Observation:
- A family presented with varying degrees of congenital aniridia, corneal dystrophy, cataracts, and ectopia lentis.
- Ocular manifestations included visual loss, nystagmus, and dense cataracts.
- No extraocular abnormalities were detected in the family through clinical and radiological investigations.
Findings:
- Cataract extraction without intraocular lens implantation was performed on three affected family members.
- Aphakia was successfully managed with glasses, leading to good patient progression.
- The family illustrated the diverse ocular presentations and management challenges of congenital aniridia.
Implications:
- Congenital aniridia necessitates comprehensive ocular and systemic evaluation due to potential associated disorders.
- Management of cataracts and aphakia in aniridia patients presents unique challenges.
- Genetic counseling is crucial for families affected by aniridia to address visual and vital prognosis.