Journal article

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers

Raymond P Najjar, Pascal Reynier, Angelique Caignard, Vincent Procaccio, Patrizia Amati-Bonneau, Heather Mack, Dan Milea

Journal of Neuro-Ophthalmology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2019


BACKGROUND: Myoclonic epilepsy with ragged-red fibers (MERRF, OMIM, #545000) is a rare neurological condition mostly caused by the m.8344A>G mitochondrial DNA pathogenic variant, which can variably affect multiple tissues, including the retina and optic nerve. We report detection of visually asymptomatic neuroretinal loss in 3 patients with genetically confirmed MERRF, using spectral domain optical coherence tomography (SD-OCT). METHODS: All patients underwent a complete ophthalmic examination including assessments of visual acuity, color vision, pupillary reactions, extraocular movements, applanation tonometry, slit-lamp, and dilated fundus examinations. Standard automated perimetry or Gold..

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