Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
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Date
2019-09
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
All India Ophthalmological Society
Abstract
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.
Description
Keywords
Hearing loss, heterochromia, Waardenburg syndrome
Citation
Kumawat D, Kumar V, Sahay P, Nongrem G, Chandra P. Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation. Indian Journal of Ophthalmology. 2019 Sep; 67(9): 1481-1483