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 heari...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
|
| Series: | Indian Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=9;spage=1481;epage=1483;aulast= |
| Summary: | 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. |
|---|---|
| ISSN: | 0301-4738 1998-3689 |