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

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dc.contributor.authorKumawat, Den_US
dc.contributor.authorKumar, Ven_US
dc.contributor.authorSahay, Pen_US
dc.contributor.authorNongrem, Gen_US
dc.contributor.authorChandra, Pen_US
dc.date.accessioned2020-04-10T02:04:33Z
dc.date.available2020-04-10T02:04:33Z
dc.date.issued2019-09
dc.description.abstractA 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.en_US
dc.identifier.affiliationsDr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, Indiaen_US
dc.identifier.citationKumawat 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): 1481-1483en_US
dc.identifier.issn0301-4738
dc.identifier.issn1998-3689
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/197486
dc.languageenen_US
dc.publisherAll India Ophthalmological Societyen_US
dc.relation.issuenumber9en_US
dc.relation.volume67en_US
dc.source.urihttps://dx.doi.org/10.4103/ijo.IJO_181_19en_US
dc.subjectHearing lossen_US
dc.subjectheterochromiaen_US
dc.subjectWaardenburg syndromeen_US
dc.titleBilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutationen_US
dc.typeJournal Articleen_US
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