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...

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Autores principales: Kumawat, Devesh, Kumar, Vinod, Sahay, Pranita, Nongrem, Grisilda, Chandra, Parijat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727726/
https://www.ncbi.nlm.nih.gov/pubmed/31436206
http://dx.doi.org/10.4103/ijo.IJO_181_19
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author Kumawat, Devesh
Kumar, Vinod
Sahay, Pranita
Nongrem, Grisilda
Chandra, Parijat
author_facet Kumawat, Devesh
Kumar, Vinod
Sahay, Pranita
Nongrem, Grisilda
Chandra, Parijat
author_sort Kumawat, Devesh
collection PubMed
description 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.
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spelling pubmed-67277262019-09-19 Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation Kumawat, Devesh Kumar, Vinod Sahay, Pranita Nongrem, Grisilda Chandra, Parijat Indian J Ophthalmol Case Reports 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. Wolters Kluwer - Medknow 2019-09 /pmc/articles/PMC6727726/ /pubmed/31436206 http://dx.doi.org/10.4103/ijo.IJO_181_19 Text en Copyright: © 2019 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Kumawat, Devesh
Kumar, Vinod
Sahay, Pranita
Nongrem, Grisilda
Chandra, Parijat
Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
title Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
title_full Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
title_fullStr Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
title_full_unstemmed Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
title_short Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
title_sort bilateral asymmetrical partial heterochromia of iris and fundus in waardenburg syndrome type 2a with a novel mitf gene mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727726/
https://www.ncbi.nlm.nih.gov/pubmed/31436206
http://dx.doi.org/10.4103/ijo.IJO_181_19
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