Indian Journal of Ophthalmology

CASE REPORT
Year
: 2019  |  Volume : 67  |  Issue : 9  |  Page : 1481--1483

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 
 Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Dr. Parijat Chandra
Room No. 373, Third Floor, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029
India

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.


How to cite this article:
Kumawat 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 J Ophthalmol 2019;67:1481-1483


How to cite this URL:
Kumawat 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 J Ophthalmol [serial online] 2019 [cited 2020 Aug 10 ];67:1481-1483
Available from: http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=9;spage=1481;epage=1483;aulast=Kumawat;type=0