Posters

Axenfeld-Rieger syndrome: a case report

Poster Details

First Author: B.Raja MOROCCO

Co Author(s): S. Belghmaidi   H. Abou El Houda   K. Jalouni   I. Hajji   A. Moutaouakil        

Abstract Details

Purpose:

Axenfeld-Rieger syndrome (ARS) is a rare genetic disease affecting around 1 in 200,000 of the population. The syndrome is characterized by anterior segment abnormalities of the eye and can also affect extraocular structures such as the craniofacial bones and dentition .The disorder is inherited as an autosomal dominant trait. Patients with ARS are at approximately a 50% risk for the development of glaucoma. In this case report, a brief description of ARS with secondary developmental glaucoma.

Setting:

departement of ophtalmology ,Hospital university Mohammed VI ,Marrakech

Methods:

we report a case of Axenfeld-Rieger syndrome.

Results:

A 28-year-old man presented with gradual painless decrease in vision in both eyes since his childhood. His visual acuity was 20/500 in the right eye and 20/400 in the left eye.Slit-lamp examination revealed iris atrophy ,corectopia,pseudopolycoria and posterior embryotoxon.On gonioscopic examination,both eyes had multiple patch-shaped iridocorneal adhesions.Intraocular pressure was 34mmHg in both eyes  . Goldmann visual field assessment showed a severe defect .He presented  multiples malformations(His upper lip was thin and the lower lip was everted, microdontia,hypodontia .Radiological explorations were normal .Our diagnosis was ARS with secondary glaucoma. Intraocular pressure was controlled with dorzolamide 2% ,timolol 0.5% and Brimonidine 0.2%.

Conclusions:

ARS is one of the ocular anterior segment dysgenesis syndromes. It is characterized by malformation of the anterior segment of the eye including abnormalities in the cornea (posterior embryotoxon), iris(corectopia,pseudopolycoria, anterior iris stromal atrophy), and anterior chamber angle structures that can result in glaucoma in approximately 50% of affected patients. Occasionally accompanied by systemic abnormalities.The pathogenesis of ARS is unknown.ARS is a multisystem disorder. The management of this entity require a multidisciplinary approach.

Financial Disclosure:

None