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Article

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

1 Oct 1997

Abstract excerpt

Fourteen patients from four unrelated families were studied to determine the prevalence of retinal pigmentary abnormalities associated with the MELAS A to G 3243 point mutation. Neurologic and ophthalmic examinations, retinal photography, pattern shift visual evoked potentials, and electroretinography were performed in all patients. Eight of the 14 patients had retinal pigmentary abnormalities characterized by...

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Share to Mitochondrial Function and Pathology
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Identifiers

PMID: 9339682
DOI: 10.1212/wnl.49.4.1013

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