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Maculopathy and Spinocerebellar Ataxia Type 1: A New Association

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Title Journal of Neuro-Ophthalmology, September 2013, Volume 33, Issue 3
Date 2013-09
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
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/s6gr03wb
Setname ehsl_novel_jno
ID 227503
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gr03wb

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Title Maculopathy and Spinocerebellar Ataxia Type 1: A New Association
Creator Lebranchu, Pierre; Le Meur, Guylene; Magot, Armelle; David, Albert; Verny, Christophe; Weber, Michel; Milea, Dan
Affiliation Department of Ophthalmology (PL, GLM, MW), Laboratoire d'explorations fonctionnelles (AM), Department of Genetic (AD), Nantes University Hospital, Nantes, France; Department of Neurology (CV), Department of Ophthalmology (DM), Angers University Hospital, Angers, France; Department of Ophthalmology (DM), Copenhagen University Hospital, Copenhagen, Denmark; and Singapore National Eye Centre and Singapore Eye Research Institute (DM), Singapore
Abstract Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy. Cross-sectional clinical and electrophysiological study of a family with genetically confirmed SCA1. Patients with unexplained visual loss were included. Four patients from the same family, carrying the same genetic mutation, were examined. Testing revealed an increased CAG trinucleotide repeat number within the SCA1 gene. Genetic testing results for SCA7 were negative. Visual acuities ranged between 20/20 and 20/200. Visual fields revealed central scotomas in most of the eyes, and funduscopy was unremarkable in most patients. Central retinal thinning of the retina or disorganized photoreceptor layers were found with optical coherence tomography (OCT). In one patient, multifocal electroretinography (mfERG) revealed central retinal dysfunction. A clinically subtle or even occult maculopathy can occur in association with SCA1. Macular OCT and mfERG can be abnormal even in asymptomatic patients. Unexplained visual loss in SCA1 patients should prompt evaluation of macular function, even if clinical signs of maculopathy are absent.
Subject Older people; Cross-Sectional Studies; Female; Humans; Macular Degeneration; Male; Middle Older people; Nerve Tissue Proteins; Nuclear Proteins; Pedigree; Retina; Spinocerebellar Ataxias; Tomography, Optical Coherence; Trinucleotide Repeats
OCR Text Show
Format application/pdf
Publication Type Journal Article
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
Setname ehsl_novel_jno
ID 227475
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gr03wb/227475
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