Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings

Matthew J Thurtell; J Alexander Fraser; Elisa Bala; Robert L Tomsak; Valérie Biousse; R John Leigh; Nancy J Newman

doi:10.1097/WNO.0b013e3181b41764

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Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings

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Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings

Matthew J Thurtell, J Alexander Fraser, Elisa Bala, Robert L Tomsak, Valérie Biousse, R John Leigh and Nancy J Newman

Journal of neuro-ophthalmology, Vol.29(3), pp.187-191

09/2009

DOI: 10.1097/WNO.0b013e3181b41764

PMCID: PMC2987707

PMID: 19726939

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Abstract

Two patients with genetically confirmed spinocerebellar ataxia type 7 (SCA7) presented with progressive visual loss. Examination disclosed substantial visual acuity loss, central scotomas, and marked dyschromatopsia. Ophthalmoscopic abnormalities were subtle, with only mild retinal artery attenuation and minimal foveal region pigmentary abnormalities. Both patients had slow saccades and partially limited ductions, although neither reported diplopia. One patient had obvious extremity and gait ataxia, but the other had only an unsteady tandem gait. Results of electroretinography (ERG) were abnormal in both patients. These cases illustrate that SCA7 may present with profound visual loss yet minimal ophthalmoscopic findings and sometimes minimal ataxia. The clues to diagnosis are the abnormal color vision, retinal artery attenuation, abnormal eye movements, and a family history of similar manifestations, which may have gone undiagnosed. Full-field or multifocal ERG will always disclose photoreceptor dysfunction. Genetic testing is now available to confirm the diagnosis.

Electroretinography

Vision, Low - physiopathology

Spinocerebellar Ataxias - complications

Eye Diseases, Hereditary - pathology

Fovea Centralis - abnormalities

Eye Diseases, Hereditary - physiopathology

Vision, Low - pathology

Humans

Male

Vision, Binocular - genetics

Color Vision Defects - genetics

Color Vision Defects - physiopathology

Young Adult

Scotoma - physiopathology

Retinal Artery - abnormalities

Saccades - genetics

Fovea Centralis - physiopathology

Vision, Low - congenital

Female

Child

Scotoma - genetics

Diagnostic Techniques, Ophthalmological

Spinocerebellar Ataxias - genetics

Details

Title: Subtitle: Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings
Creators: Matthew J Thurtell - Department of Neurology, University Hospitals Case Medical Center, Cleveland, OH, USA
J Alexander Fraser
Elisa Bala
Robert L Tomsak
Valérie Biousse
R John Leigh
Nancy J Newman
Resource Type: Journal article
Publication Details: Journal of neuro-ophthalmology, Vol.29(3), pp.187-191
DOI: 10.1097/WNO.0b013e3181b41764
PMID: 19726939
PMCID: PMC2987707
NLM abbreviation: J Neuroophthalmol
ISSN: 1070-8022
eISSN: 1536-5166
Publisher: United States
Grant note: P30 EY006360-25 / NEI NIH HHS EY 06717 / NEI NIH HHS P30-EY06360 / NEI NIH HHS P30 EY006360 / NEI NIH HHS R01 EY006717-24 / NEI NIH HHS R01 EY006717 / NEI NIH HHS
Language: English
Date published: 09/2009
Academic Unit: Neurology; Ophthalmology and Visual Sciences
Record Identifier: 9983980399702771

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