Kumawat, DKumar, VSahay, PNongrem, GChandra, P2020-04-102020-04-102019-09Kumawat 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): 1481-14830301-47381998-3689http://imsear.searo.who.int/handle/123456789/197486A 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.Hearing lossheterochromiaWaardenburg syndromeJournal ArticleIndiaDr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India