Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene

Toshiaki Abe, Koji Abe, Masashi Aohi, Yasuto Itoyama, Makoto Tamai

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Objective: To examine ocular changes in patients with spinocerebellar degeneration who have repeated tri-nucleotide expansion in the spinocerebellar ataxia type 1 (SCAI) gene. Design: Ophthalmic findings in 6 patients from 3 families whose DNA analysis revealed that they had an expanded allele of the trinucleotide repeated in the SCA1 gene were compared with those of normal control subjects and other healthy family members. The DNA was extracted from peripheral blood lymphocytes of the neu- redegenerative family and normal control subjects. Setting: University medical center. Results: Visual acuity gradually decreased in successive follow-up visits. Color vision and visual fields were gradually affected. Electroretinograms showed mild attenuation of oscillatory potentials. Corneal endothelial cell density was severely decreased from 600 to 1300 cells/ram2. These findings were not observed in the normal control subjects, other healthy family members, or other patients with spinocerebellar degeneration who had repeated trinucleotide expansion of other genes. Conclusion: To the best of our knowledge, this is the first report describing the association between ocular changes in patients with spinocerebellar degeneration and gene mutation. These ocular changes were considered specific to patients who had the expanded allele of the repealed trinucleotide in the SCA 1 gene.

Original languageEnglish
Pages (from-to)231-236
Number of pages6
JournalArchives of Ophthalmology
Volume115
Issue number2
Publication statusPublished - 1997
Externally publishedYes

Fingerprint

Spinocerebellar Degenerations
Spinocerebellar Ataxias
Genes
Healthy Volunteers
Alleles
Color Vision
DNA
Visual Fields
Visual Acuity
Nucleotides
Endothelial Cells
Cell Count
Lymphocytes
Mutation

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. / Abe, Toshiaki; Abe, Koji; Aohi, Masashi; Itoyama, Yasuto; Tamai, Makoto.

In: Archives of Ophthalmology, Vol. 115, No. 2, 1997, p. 231-236.

Research output: Contribution to journalArticle

@article{84f82bc5dc084975bc9746d71fb5a211,
title = "Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene",
abstract = "Objective: To examine ocular changes in patients with spinocerebellar degeneration who have repeated tri-nucleotide expansion in the spinocerebellar ataxia type 1 (SCAI) gene. Design: Ophthalmic findings in 6 patients from 3 families whose DNA analysis revealed that they had an expanded allele of the trinucleotide repeated in the SCA1 gene were compared with those of normal control subjects and other healthy family members. The DNA was extracted from peripheral blood lymphocytes of the neu- redegenerative family and normal control subjects. Setting: University medical center. Results: Visual acuity gradually decreased in successive follow-up visits. Color vision and visual fields were gradually affected. Electroretinograms showed mild attenuation of oscillatory potentials. Corneal endothelial cell density was severely decreased from 600 to 1300 cells/ram2. These findings were not observed in the normal control subjects, other healthy family members, or other patients with spinocerebellar degeneration who had repeated trinucleotide expansion of other genes. Conclusion: To the best of our knowledge, this is the first report describing the association between ocular changes in patients with spinocerebellar degeneration and gene mutation. These ocular changes were considered specific to patients who had the expanded allele of the repealed trinucleotide in the SCA 1 gene.",
author = "Toshiaki Abe and Koji Abe and Masashi Aohi and Yasuto Itoyama and Makoto Tamai",
year = "1997",
language = "English",
volume = "115",
pages = "231--236",
journal = "JAMA Ophthalmology",
issn = "2168-6165",
publisher = "American Medical Association",
number = "2",

}

TY - JOUR

T1 - Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene

AU - Abe, Toshiaki

AU - Abe, Koji

AU - Aohi, Masashi

AU - Itoyama, Yasuto

AU - Tamai, Makoto

PY - 1997

Y1 - 1997

N2 - Objective: To examine ocular changes in patients with spinocerebellar degeneration who have repeated tri-nucleotide expansion in the spinocerebellar ataxia type 1 (SCAI) gene. Design: Ophthalmic findings in 6 patients from 3 families whose DNA analysis revealed that they had an expanded allele of the trinucleotide repeated in the SCA1 gene were compared with those of normal control subjects and other healthy family members. The DNA was extracted from peripheral blood lymphocytes of the neu- redegenerative family and normal control subjects. Setting: University medical center. Results: Visual acuity gradually decreased in successive follow-up visits. Color vision and visual fields were gradually affected. Electroretinograms showed mild attenuation of oscillatory potentials. Corneal endothelial cell density was severely decreased from 600 to 1300 cells/ram2. These findings were not observed in the normal control subjects, other healthy family members, or other patients with spinocerebellar degeneration who had repeated trinucleotide expansion of other genes. Conclusion: To the best of our knowledge, this is the first report describing the association between ocular changes in patients with spinocerebellar degeneration and gene mutation. These ocular changes were considered specific to patients who had the expanded allele of the repealed trinucleotide in the SCA 1 gene.

AB - Objective: To examine ocular changes in patients with spinocerebellar degeneration who have repeated tri-nucleotide expansion in the spinocerebellar ataxia type 1 (SCAI) gene. Design: Ophthalmic findings in 6 patients from 3 families whose DNA analysis revealed that they had an expanded allele of the trinucleotide repeated in the SCA1 gene were compared with those of normal control subjects and other healthy family members. The DNA was extracted from peripheral blood lymphocytes of the neu- redegenerative family and normal control subjects. Setting: University medical center. Results: Visual acuity gradually decreased in successive follow-up visits. Color vision and visual fields were gradually affected. Electroretinograms showed mild attenuation of oscillatory potentials. Corneal endothelial cell density was severely decreased from 600 to 1300 cells/ram2. These findings were not observed in the normal control subjects, other healthy family members, or other patients with spinocerebellar degeneration who had repeated trinucleotide expansion of other genes. Conclusion: To the best of our knowledge, this is the first report describing the association between ocular changes in patients with spinocerebellar degeneration and gene mutation. These ocular changes were considered specific to patients who had the expanded allele of the repealed trinucleotide in the SCA 1 gene.

UR - http://www.scopus.com/inward/record.url?scp=0031044375&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031044375&partnerID=8YFLogxK

M3 - Article

C2 - 9046258

AN - SCOPUS:0031044375

VL - 115

SP - 231

EP - 236

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

SN - 2168-6165

IS - 2

ER -