Retinal Degeneration Associated With the G1606A Mitochondrial Mutation

Ophthalmic Surg Lasers Imaging Retina. 2022 Feb;53(2):116-119. doi: 10.3928/23258160-20220121-04. Epub 2022 Feb 1.

Abstract

The guanine-to-adenine substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA transfer RNA-valine gene has been reported to cause sensorineural deafness, ataxia, myoclonus, seizures, and mental retardation. This study hereby presents a single case report of a new retinal phenotype associated with this mutation: a middle-aged woman with retinal pigment epithelium stippling, atrophy, and peripapillary (retinal pigment epithelium) dropout on fundus examination. The patient was administered an empiric trial of a mitochondrial cocktail with close monitoring of her systemic symptoms. This study identified a novel G1606A mutation to cause early-onset macular pathology resembling that previously described in the A3243G mutation. [Ophthalmic Surg Lasers Imaging Retina. 2022;53:116-119.].

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fundus Oculi
  • Humans
  • Middle Aged
  • Mutation
  • Retina / pathology
  • Retinal Degeneration* / pathology
  • Retinal Pigment Epithelium / pathology