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

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Title Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers
Creator Raymond P. Najjar, Pascal Reynier, Angélique Caignard, Vincent Procaccio, Patrizia Amati-Bonneau, Heather Mack, Dan Milea
Affiliation Department of Visual Neurosciences (RPN, DM), Singapore Eye Research Institute, The Academia, Singapore; Ophthalmology and Visual Sciences Program (RPN, DM), Duke-NUS Medical School, Singapore; Departments of Ophthalmology, Biochemistry and Genetics (PR, AC, VP, PA-B and DM), Angers University Hospital, Angers, France; Department of Neuro-Ophthalmology (DM), Singapore National Eye Centre, Singapore; and Department of Surgery (Ophthalmology) (HM), Melbourne Medical School, University of Melbourne, Melbourne, Australia
Abstract 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 Goldmann kinetic perimetry was performed, as well as fundus photographs and SD-OCT of the optic nerve head and macula. Results: Despite the absence of visual symptoms in all patients, and normal visual acuity and visual fields in 1 patient, the 3 genetically confirmed patients (point mutations m.8344A>G; age range: 18-62 years) with MERRF-related neurological manifestations, displayed thinning of the retinal nerve fiber layer and variable alterations of the macular ganglion cell complex. Conclusions: Visually asymptomatic patients with genetically confirmed MERRF can display features of structural neuroretinal loss, quantifiable with SD-OCT. Further investigations are needed to establish whether OCT can assess early neurodegeneration in MERRF.
OCR Text Show
Publisher Lippincott, Williams & Wilkins
Date 2019-03
Type Text
Source Journal of Neuro-Ophthalmology, March 2019, Volume 39, Issue 1
Language eng
Rights Management © North American Neuro-Ophthalmology Society
Publication Type Journal Article
ARK ark:/87278/s6hx735m
Setname ehsl_novel_jno
Date Created 2020-09-25
Date Modified 2021-05-06
ID 1595916
Reference URL