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



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



American Journal of Ophthalmology 128(1): 112-114



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.

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Accession: 010991487

Download citation: RISBibTeXText

PMID: 10482110

DOI: 10.1016/s0002-9394(99)00057-4


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