FAMILIAL ANIRIDIA ASSOCIATED WITH CONGENITAL CATARACT
Published 2024 - 28th ESCRS Winter Meeting
Reference: P171 | Type: Presented Poster & Poster | DOI: 10.82333/xrjr-kj90
Authors: Naoual Mtalai* 1 , Sara Ennaki 1 , Reda Benchekroun 1 , Ghizlane Daghouj 1 , Zyad Laftimi 1 , Loubna Elmaaloum 1 , Bouchra Allali 1 , Asmaa Elkettani 1
1PEDIATRIC OPHTALMOLOGY,20 AUGUST HOSPITAL,CASABLANCA,Morocco
Purpose
Report a rare case of familial aniridia associated with congenital cataract
Setting
Congenital aniridia is a rare condition manifested essentially by iris hypoplasia. It may be associated with other ocular disorders (glaucoma, corneal dystrophy, congenital cataract, lens ectopia, macular and optic nerve hypoplasia) and systemic disorders, in particular urogenital disorders.
Methods
We report the observations of a family with familial aniridia (the father aged 43 and his 4 children aged 18, 14, 12 and 2 respectively).
Results
The 43-year-old father had bilateral iris hypoplasia associated with an operated cataract. Examination of the first 3 children revealed low visual acuity, bilateral aniridia with bilateral crystalline ectopia. Examination of the youngest child visual behaviour with bilateral aniridia associated with a posterior polar cataract (denser on the left eye). The family's general check-up showed no extraocular anomalies. Three children underwent cataract surgery without intraocular intraocular implants, with favorable outcomes. The youngest is scheduled for cataract surgery.
Conclusion
Congenital aniridia is a rare condition, which may be associated with damage to various ocular structures. Precise phenotyping of these disorders enables a better prognosis, and thus to better adapt therapeutic management. Genetic counseling should always be offered to parents.