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

doi:10.4103/ijo.IJO_181_19

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

Indian J Ophthalmol. 2019 Sep;67(9):1481-1483. doi: 10.4103/ijo.IJO_181_19.

Authors

Devesh Kumawat¹, Vinod Kumar¹, Pranita Sahay¹, Grisilda Nongrem¹, Parijat Chandra¹

Affiliation

¹ Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Abstract

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.

Keywords: Hearing loss; Waardenburg syndrome; heterochromia.

Publication types

Case Reports

MeSH terms

Child, Preschool
DNA / genetics*
Female
Humans
Iris / pathology
Iris Diseases / diagnosis*
Iris Diseases / genetics
Iris Diseases / metabolism
Microphthalmia-Associated Transcription Factor / genetics*
Microphthalmia-Associated Transcription Factor / metabolism
Mutation*
Pedigree
Phenotype
Pigmentation Disorders / diagnosis*
Pigmentation Disorders / genetics
Pigmentation Disorders / metabolism
Waardenburg Syndrome / diagnosis*
Waardenburg Syndrome / genetics
Waardenburg Syndrome / metabolism

Substances

MITF protein, human
Microphthalmia-Associated Transcription Factor
DNA

Supplementary concepts

Heterochromia iridis
Waardenburg syndrome type 2A