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.

journal_name

Am J Ophthalmol

authors

Latkany P,Ciulla TA,Cacchillo PF,Malkoff MD

doi

10.1016/s0002-9394(99)00057-4

subject

Has Abstract

pub_date

1999-07-01 00:00:00

pages

112-4

issue

1

eissn

0002-9394

issn

1879-1891

pii

S0002939499000574

journal_volume

128

pub_type

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