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. |
Subject |
Adolescent; Adult; Asymptomatic Diseases; Female; Humans; MERRF Syndrome / complications; MERRF Syndrome / diagnosis; Male; Middle Aged; Nerve Fibers / pathology; Optic Disk / pathology; Retinal Diseases / diagnosis; Retinal Diseases / etiology; Retinal Diseases / physiopathology; Retinal Ganglion Cells / pathology; Tomography, Optical Coherence / methods; Visual Acuity |
Date |
2019-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Publication Type |
Journal Article |
Source |
Journal of Neuro-Ophthalmology, March 2019, Volume 39, Issue 1 |
Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
Publisher |
Lippincott, Williams & Wilkins |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
© North American Neuro-Ophthalmology Society |
ARK |
ark:/87278/s6hx735m |
Setname |
ehsl_novel_jno |
ID |
1595916 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6hx735m |