FP0095 : Trabulosi Syndrome: Unveiling the Mysteries of a Rare Disease

Abstract

Trabulosi syndrome is an uncommon genetic disorder, only reported in less than 20 people to date with a constellation of ocular manifestations. While the syndrome's prevalence is low, understanding its impact on visual function and identifying effective management strategies are essential for providing optimal care to affected individuals. Traboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose).
We did clinical photograph both undilated and dilated image, ASOCT of angle and spontaneous looking bleb, fundus OCT showing hypotonic maculopathy, Gonioscopy to see angle dysgenesis. We proceeded with bleb revision surgery for hypotonic maculopathy due to long standing persistent low intra ocular pressure.

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