Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation

A 3-year-old girl presented with bilateral asymmetrical partial heterochromia of iris and fundus. The parents also complained of bilateral hearing loss in the child. Suspecting an auditory-pigmentary syndrome, systemic and genetic evaluation was performed. The child had profound sensory-neural hearing loss. Targeted gene sequencing revealed a novel nonsense variation in exon 9 of the MITF gene (chr3:70008440A>T) that was pathogenic for Waardenburg syndrome (WS) type 2A. This case highlights the characteristics of the iris and fundus hypochromia, which may provide a clue toward the diagnosis of WS.

Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma

A 15-year-old female child with history of bilateral poor vision since childhood presented with sudden onset pain, photophobia, and diminution of vision OD for 10 days. Visual acuity was hand motion OD and 1/60 OS. Slit lamp examination revealed microcornea OU with multiple intrastromal fluid clefts OD and an irregular cornea and iridofundal coloboma OS. A clinical diagnosis of acute corneal hydrops OD was made, and the child was subjected to intraoperative optical coherence tomography guided intrastromal fluid drainage with air tamponade. The corneal edema resolved completely within 2 weeks resuming visual acuity to 3/60 allowing laser delimitation of fundal coloboma OD.