Ophthalmic Features of Spinocerebellar Ataxia Type 7
- 1 September 2009
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Journal of Neuro-Ophthalmology
- Vol. 29 (3), 174-179
- https://doi.org/10.1097/wno.0b013e3181b2828e
Abstract
Background: Patients with spinocerebellar ataxia 7 (SCA7) are known to develop ocular abnormalities. The purpose of this study was to characterize these abnormalities in greater detail and with the aid of newer quantitative technologies. Methods: Seven patients with SCA7 diagnosed by genetic analysis at La Paz Hospital (Madrid, Spain), a country-wide referral center for ataxias, were included in the study. Demographic data and ocular features were recorded from a complete ophthalmologic examination, specular microscopy, corneal topography (Pentacam), and optical coherence tomography (OCT). Results: All 7 patients had decreased visual acuity associated with varying degrees of macular pigmentary changes on ophthalmoscopy. All 7 had lower corneal endothelial cell densities than expected for their age, and 5 had increased corneal volume, although none had corneal edema. Patients with mild disease showed retinal thinning at the fovea. In patients with more advanced disease, retinal thinning was present also in the outer zone of the macula. Mean peripapillary retinal nerve fiber layer thickness was decreased in all patients; however, the temporal quadrant was spared except in advanced disease. Conclusions: This study of 7 patients with SCA7 amplifies previous reports of ophthalmic abnormalities in this condition by providing data from specular microscopy, corneal topography, and OCT. Abnormalities were present in the anterior and posterior ocular segments, as well as in eye movements and pupillary reactions. Visual dysfunction, present in all patients, was associated with retinal thinning. Decreased endothelial cell density and increased corneal thickness were common.Keywords
This publication has 33 references indexed in Scilit:
- Review of Corneal Endothelial Specular Microscopy for FDA Clinical Trials of Refractive Procedures, Surgical Devices, and New Intraocular Drugs and SolutionsCornea, 2008
- Morphometry of Corneal Endothelium in Patients with Corneal GuttataOphthalmology, 2007
- Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophyEuropean Journal of Human Genetics, 2003
- Spinocerebellar ataxia 7 (SCA7)Cytogenetic and Genome Research, 2003
- Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7Neuron, 2001
- Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic casesHuman Genetics, 1999
- Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotypeNeurology, 1998
- Changes in the normal corneal endothelial cellular pattern as a function of ageCurrent Eye Research, 1985
- Clinical Investigations on the Corneal EndotheliumOphthalmology, 1982
- Corneal Decomposition after Corneal Endothelium Cell CountAmerican Journal of Ophthalmology, 1979