DR. PRAGYA AHUJA

DR.SYED WAJAHAT ALI RIZVI

Abstract

We discuss the case of a 15 year old boy who presented to us with complaint of decreased vision. His slit lamp examination showed a unilateral eccentric congenital corneal opacity with peripheral inferonasal iris strands and posterior lenticonus. Gonioscopy showed bilateral trabecular meshwork dysgenesis. A patch of chorioretinal atrophy was seen on fundus examination. His systemic examination revealed short stature, brachydactyly and bilateral small central tympanic membrane perforations. Multiple ocular and systemic malformations of peters have been observed and novel comorbidities continue to be reported. Clinical findings and management strategies from over 60 case reports have been consolidated which state developmental delay, ear abnormalities, cleft lip, short stature, and joint laxity as major clinical features. Through this paper, we aim to make ophthalmologists caring for pediatric patients aware of this clinical condition to avoid any misdiagnosis in the future.