The Retinal Manifestations of Mitochondrial Myopathy

Mullie, Marc

doi:10.1001/archopht.1985.01050120059020

Cited by 79 publications

(32 citation statements)

References 10 publications

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“…Ophthalmologically, extraocular muscles are preferentially affected, and chronic progressive external ophthalmoplegia and blepharoptosis are the major sign in many mitochondrial diseases. The retina is also a vulnerable tissue to be involved by mtDNA defect, and various types of retinopathy have been described in individual disease (Koerner 1972;Beckman & Henkind 1976;Mullie et al 1985). Herein, we review our records of a variety of mitochondrial diseases with reference to retinal manifestations and discuss the features of retinopathy associated with mtDNA defect.…”

supporting

confidence: 41%

Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation

Isashiki

Nakagawa

Ohba

et al. 1998

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose: 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. Methods: 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. Results: 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 associated with a mtDNA mutation at nucleotide position (np) 8344, one patient showed mild pigment disorder in the posterior pole in addition to optic neuropathy. Two of 20 patients with LHON associated with a mtDNA mutation at np 11778 showed mild pigmentary defect in the macula together with typical optic neuropathy. In addition, two of 30 patients with isolated diabetes mellitus showed a mtDNA mutation at np 3243 (MELAS mutation), but they did not present with any other neurologic or multisystem disorder. Conclusion: The retina, in particular the retinal pigment epithelium, is highly vulnerable to be involved by mtDNA defect, and the retinopathy is phenotypically variable and frequently subclinical, depending to some extent on the type or site of mtDNA defect.

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supporting

confidence: 41%

Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation

Isashiki

Nakagawa

Ohba

et al. 1998

Acta Ophthalmologica Scandinavica

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“…Ophthalmoplegia is absent. Other clinical effects which have been associated with mitochondrial myopathy include Wolf-Parkinson-White conduction defect (Bet et al, 1988), cardiomyopathy Bet et al, 1988;Angelini et al, 1988), hearing loss and vertigo Hackett et al, 1973), seizures , and retinopathy (Mullie et al, 1985) (Table I). Childhood Monnens et al, 1975;Hackett et al, 1973;Tarlow et al, 1973;Reichmann et al, 1986;Hayes et al, 1984;Morgan-Hughes et al, 1977, 1979Hudgson et al, 1972;Worsfold et al, 1973), adolescent (Hudgson et al, 1972;Worsfold et al, 1973;Land et al, 1981;Trockel et al, 1986), and adult onset (Servidei eta[., 1987;Bresolin et al, 1988a) forms of the disease occur.…”

Section: Mitochondrial Myopathymentioning

confidence: 41%

Oxidative Phosphorylation Diseases

Shoffner

Wallace

1990

Advances in Human Genetics

246

157

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“…The retinopathy usually affects the posterior fundus and has a salt-and-pepper appearance with diffuse depigmentation of the retinal epithelium. It is called atypical to distinguish it from the typical perivenous, bone spicule appearance of retinitis pigmentosa [24]. The clinical course is usually benign with night blindness or diminished visual acuity occurring in less than half of the patients [8,24].…”

Section: Discussionsupporting

confidence: 46%