DOAJ Open Access 2019

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

Devesh Kumawat Vinod Kumar Pranita Sahay Grisilda Nongrem Parijat Chandra

Abstrak

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.

Topik & Kata Kunci

Ophthalmology

Penulis (5)

Devesh Kumawat

Vinod Kumar

Pranita Sahay

Grisilda Nongrem

Parijat Chandra

Format Sitasi

APA MLA BibTeX

Kumawat, D., Kumar, V., Sahay, P., Nongrem, G., Chandra, P. (2019). Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation. https://doi.org/10.4103/ijo.IJO_181_19

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Informasi Jurnal

Tahun Terbit: 2019
Sumber Database: DOAJ
DOI: 10.4103/ijo.IJO_181_19
Akses: Open Access ✓