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.


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


  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor
  • DNA

Supplementary concepts

  • Heterochromia iridis
  • Waardenburg syndrome type 2A