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J. Goshe, E. Traboulsi, B. Cohen, S. Parikh, N. Friedman, M. Natowicz; Ocular Manifestations of Non-Syndromic Mitochondrial Cytopathies. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1004.
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To evaluate the prevalence of ocular manifestations in patients diagnosed with non-syndromic mitochondrial cytopathies.
After IRB approval was obtained, we retrospectively reviewed the charts of 134 patients with suspected non-syndromic mitochondrial cytopathies (ie, not Kearns-Sayre syndrome, myoclonus epilepsy associated with ragged red fibers [MERRF], mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes [MELAS], neuropathy ataxia and retinitis pigmentosa, Leigh disease, maternally inherited diabetes and deafness, and myoneurogastrointestinal disorder and encephalopathy). To be included, patients must have received a comprehensive ophthalmological examination by either a pediatric ophthalmologist or neuro-ophthalmologist. Only patients meeting the clinical the clinical and laboratory criteria for "probable" or "definite" mitochondrial cytopathy (as defined by Bernier et al) were included.
Of the 134 patients reviewed, 60 met clinical and laboratory criteria for inclusion in the study. Of these 60 patients, 27 had ocular and visual system abnormalities including: 11 patients (18.3%) with optic nerve atrophy and/or hypoplasia, 4 patients with retinal pigmentary changes (6.6%), 7 patients with strabismus (11.6%), 2 patients with abnormal color vision (3.3%), 3 patients with nystagmus (5%), 2 patients with abnormal eye movements (3.3%), 1 patient with a combined iris and optic disc coloboma (1.6%), and 1 patient with cortical blindness (1.6%).
Our data suggest an increased rate of optic nerve abnormalities and retinal pigmentary disturbances in patients with non-syndromic mitochondrial cytopathies. Our data also indicate a probable increased prevalence of strabismus and abnormal eye movements. These findings highlight the importance of conducting a full ophthalmological examination in patients suspected of having a mitochondrial disorder.
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