Rod-cone dystrophy in spinocerebellar ataxia type 1

Matthew J Thurtell; Valérie Biousse; Nancy J Newman

doi:10.1001/archophthalmol.2011.172

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Rod-cone dystrophy in spinocerebellar ataxia type 1

Journal article

Open access

Peer reviewed

Rod-cone dystrophy in spinocerebellar ataxia type 1

Matthew J Thurtell, Valérie Biousse and Nancy J Newman

Archives of ophthalmology (1960), Vol.129(7), pp.956-958

07/2011

DOI: 10.1001/archophthalmol.2011.172

PMCID: PMC4012413

PMID: 21746990

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Abstract

Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant neurodegenerative disease caused by a CAG triplet repeat expansion in the SCA1 gene on chromosome 6, encoding for a protein called ataxin-1.1 Spinocerebellar ataxia type 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 electroretinography (ERG) also reported in 6 patients.4 We describe a patient with genetically confirmed SCA1 who developed progressive painless binocular vision loss and had evidence of rod and cone photoreceptor dysfunction on full-field ERG.

Magnetic Resonance Imaging

Electroretinography

Spinocerebellar Ataxias - complications

Ataxin-1

Blindness - diagnosis

Humans

Middle Aged

Blepharospasm - etiology

Retinitis Pigmentosa - genetics

Visual Acuity

Nerve Tissue Proteins - genetics

Disease Progression

Retinitis Pigmentosa - diagnosis

Spinocerebellar Ataxias - diagnosis

Ataxins

Blepharospasm - diagnosis

Visual Fields

Female

Retinitis Pigmentosa - etiology

Nuclear Proteins - genetics

Blindness - etiology

Photoreceptor Cells, Vertebrate - pathology

Spinocerebellar Ataxias - genetics

Details

Title: Subtitle: Rod-cone dystrophy in spinocerebellar ataxia type 1
Creators: Matthew J Thurtell
Valérie Biousse
Nancy J Newman
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.129(7), pp.956-958
DOI: 10.1001/archophthalmol.2011.172
PMID: 21746990
PMCID: PMC4012413
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: UL1-RR025008 / NCRR NIH HHS UL1 RR025008 / NCRR NIH HHS UL1 TR000454 / NCATS NIH HHS
Language: English
Date published: 07/2011
Academic Unit: Neurology; Ophthalmology and Visual Sciences
Record Identifier: 9983979995802771

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