Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
Indian J Ophthalmol
;
2019 Sep; 67(9): 1481-1483
Artigo
| IMSEAR
| ID: sea-197486
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 (chr370008440A>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.
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IMSEAR (Sudeste Asiático)
Revista:
Indian J Ophthalmol
Ano de publicação:
2019
Tipo de documento:
Artigo
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