Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation

Am J Ophthalmol. 1999 Jul;128(1):112-4. doi: 10.1016/s0002-9394(99)00057-4.


Purpose: To report ocular findings in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) in a family with the A to G 3243 mitochondrial (mt) DNA point mutation.

Methods: Case reports. Ocular findings are described from four family members with the MELAS associated A to G 3243 mt DNA point mutation.

Results: Findings included ophthalmoplegia, neurosensory deafness, reduction of photopic and scotopic electroretinogram b-wave amplitudes, and myopathy, as well as macular retinal pigment epithelial atrophy. No family members had nyctalopia, attenuation of retinal blood vessels, or retinal bone spicule pigmentation.

Conclusion: The finding of slowly progressive macular retinal pigment epithelial atrophy expands the reported phenotypic diversity of patients with A3243G mt DNA mutations.

Publication types

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

MeSH terms

  • Adenine
  • Atrophy
  • DNA, Mitochondrial / genetics*
  • Deafness / genetics
  • Deafness / pathology
  • Electroretinography
  • Female
  • Guanine
  • Humans
  • MELAS Syndrome / genetics*
  • Macula Lutea / pathology*
  • Male
  • Middle Aged
  • Ophthalmoplegia / genetics
  • Ophthalmoplegia / pathology
  • Pigment Epithelium of Eye / pathology*
  • Point Mutation*
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology


  • DNA, Mitochondrial
  • Guanine
  • Adenine