The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

Am J Ophthalmol. 2003 Dec;136(6):1170-1. doi: 10.1016/s0002-9394(03)00665-2.


Purpose: To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness.

Design: Observational case report. The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness.

Results: A de novo heterozygous mutation R445H in the OPA1 gene was found. No similar mutation was detected in either of the patient's parents or in the 100 chromosome controls.

Conclusion: The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Female
  • GTP Phosphohydrolases / genetics*
  • Genes, Dominant
  • Humans
  • Mutation*
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Polymerase Chain Reaction


  • GTP Phosphohydrolases
  • OPA1 protein, human