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

Abstract

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.

• Authors: P Latkany, T A Ciulla, P F Cacchillo, M D Malkoff
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 128 Issue 1 Pg. 112-4 (Jul 1999) ISSN: 0002-9394 [Print] United States
• PMID: 10482110 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Guanine
• Adenine

Topics

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