Open AccessBilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation
Author(s) -
Devesh Kumawat,
Vinod Kumar,
Pranita Sahay,
Grisilda grem,
Parijat Chandra
Publication year - 2019
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_181_19
Subject(s) - waardenburg syndrome , microphthalmia associated transcription factor , medicine , fundus (uterus) , nonsense , exon , iris (biosensor) , hearing loss , gene , pax3 , genetics , ophthalmology , audiology , biology , phenotype , computer security , transcription factor , biometrics , computer science
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.