Rod-Cone Dystrophy in Spinocerebellar Ataxia Type 1

• Type of Material: Article
• Authors: Matthew J. Thurtell, Emory University; Valerie Biousse, Emory University; Nancy Newman, Emory University
• Language: English
• Date: 2011-07-01
• Publisher: American Medical Association (AMA)
• Publication Version: Final Published Version
• Copyright Statement: © 2011, American Medical Association
• Final Published Version (URL): http://dx.doi.org/10.1001/archophthalmol.2011.172
• Title of Journal or Parent Work: Archives of Ophthalmology -New Series-
• ISSN: 0003-9950
• Volume: 129
• Issue: 7
• Start Page: 956
• End Page: 958
• Grant/Funding Information: This study was supported, in part, by a departmental grant (Department of Ophthalmology) from Research to Prevent Blindness, Inc, New York, New York, and by core grant UL1-RR025008 (Department of Ophthalmology) from the National Institute of Health, Bethesda, Maryland.; Dr. Newman is a recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award.
• Keywords: Life Sciences & Biomedicine; Science & Technology; GENE; Ophthalmology
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Neuroscience; Health Sciences, Opthamology

Abstract

Spinocerebellar ataxia type 1 (SCA-1) is a rare autosomal dominant neurodegenerative disease caused by a CAG triplet repeat expansion in the SCA-1 gene on chromosome 6, encoding for a protein called ataxin-1.1 SCA-1 typically produces a progressive cerebellar syndrome, with prominent ataxia, dysarthria, and bulbar palsy.2 Early ophthalmologic manifestations include saccadic hypermetria, gaze-evoked nystagmus, and rebound nystagmus, with saccadic slowing and ophthalmoplegia developing in the later stages of the disease.2,3 Decreased visual acuity, dyschromatopsia, and optic atrophy are less commonly reported, with attenuation of oscillatory potentials on full-field electroretinogram (ERG) also reported in six patients.4 We describe a patient with genetically-confirmed SCA-1 who developed progressive painless binocular visual loss, and had evidence of rod and cone photoreceptor dysfunction on full-field ERG.