Abstract
Purpose: :
To evaluate the prevalence of ocular manifestations in patients diagnosed with non-syndromic mitochondrial cytopathies.
Methods: :
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.
Results: :
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%).
Conclusions: :
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.
Keywords: mitochondria • optic nerve • strabismus