PMID: 9541428Apr 16, 1998Paper

Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation

Acta Ophthalmologica Scandinavica
Y IsashikiM Osame

Abstract

To scrutinize retinal involvement associated with distinct mitochondrial DNA (mtDNA) defects, we reviewed the records of a consecutive series of patients with various mitochondrial diseases. Clinical, laboratory and mtDNA studies were performed in: five patients with Kearns-Sayre syndrome (KSS); six patients with chronic progressive external ophthalmoplegia (CPEO); three patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS); three patients with myoclonic epilepsy and ragged-red fibers (MERRF); 20 patients with Leber's hereditary optic neuropathy (LHON); 30 patients with simple diabetes mellitus. All KSS patients with neurologic and cardiac symptoms associated with a deletion of mtDNA in muscle biopsy specimens showed widespread retinal pigmentary changes characterized by salt- and pepper-like appearance of the fundus. Three of six patients with CPEO, a mild variant of KSS, showed subtle defects at the level of retinal pigment epithelium of the posterior pole, although mtDNA deletion was similar to that in KSS. Of three patients with MELAS syndrome, one patient showed juvenile cataract and mild retinal pigmentary defect in the posterior pole. Of three patients with MERRF syndrome ...Continue Reading

Citations

Dec 5, 2002·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Valérie BiousseNancy J Newman
Feb 28, 2008·Retina·Michael S LeeClaxton Baer
Jul 1, 2008·Experimental & Molecular Medicine·Byung-Ok ChoiKi Wha Chung
Apr 1, 2008·Middle East African Journal of Ophthalmology·Anuradha Ganesh, Govindaswamy Kumaramanickavel
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Feb 12, 2017·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Patrick Yu-Wai-Man
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Mar 27, 2021·Taiwan Journal of Ophthalmology·Jane H LockNancy J Newman

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