Title: Ophthalmologic findings in 40 patients with mitochondrial diseases with known DNA mutation
Abstract: Introduction: Mitochondrial encephalomyopathies constitute a relatively common group of neurometabolic diseases in childhood. They are caused by defects in the oxidative phosphorylation due to mutations in either the nuclear or the mitochondrial DNA (mtDNA). Since 1988, more than 100 mutations of mtDNA have been reported, including large-scale rearrangements, as well as point mutations. Different ophthalmologic findings, such as external ophthalmoplegia, optic disk atrophy, and retinal degeneration have previously been reported. The purpose of this study was to describe ophthalmologic findings in patients with mitochondrial diseases with known genotype. Methods: A retrospective study was performed in 40 patients (20 males; 20 females) born between 1967 and 2002 having mitochondrial encephalomyopathies (ie, MELAS, MERFF, Kearns-Sayres, and Leigh syndrome). Thirty-nine of these subjects had undergone a detailed ophthalmologic examination including visual acuity (VA), eye motility, refraction, slit-lamp examination, ophthalmoscopy, electroretinogram (ERG), and pachymetry. Results: Thirty-three of 39 (85%) of the patients had one or more ophthalmologic findings such as ptosis (n = 11), reduced eye motility (n = 11), severe external ophthalmoplegia (n = 4), strabismus (n = 4), nystagmus (n = 3), low VA (n = 13), refractive errors (n = 10), increased corneal thickness (n = 8), photophobia (n = 2), optic atrophy (n = 10), pigmentation in the macula and/or periphery (n = 6), and ERG-verified retinal dystrophy (n = 5). Some genotypes (ie, mtDNA deletion) have a more severe ophthalmologic phenotype than others. Conclusions: The results show that a majority of patients with mitochondrial diseases with known mtDNA mutations has ophthalmologic abnormalities. We recommend that an ophthalmologic examination, including ERG, should be performed in children and adolescents who are suspected to have a mitochondrial disease.
Publication Year: 2007
Publication Date: 2007-02-01
Language: en
Type: article
Indexed In: ['crossref']
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