April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Identification of a New Locus for Non-Syndromic Recessive Optic Atrophy on Chromosome 20 (ROA3)
J. A. Poulter; D. F. Gilmour; I. M. Carr; E. Sheridan; A. J. Churchill; A. F. Markham; H. C. Ardley; M. Ali; C. F. Inglehearn; C. Toomes
Author Affiliations & Notes
  • J. A. Poulter
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • D. F. Gilmour
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • I. M. Carr
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • E. Sheridan
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • A. J. Churchill
    Bristol Eye Hospital, University of Bristol, United Kingdom
  • A. F. Markham
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • H. C. Ardley
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • M. Ali
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • C. F. Inglehearn
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • C. Toomes
    Ophthalmology & Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, United Kingdom
  • Footnotes
    Commercial Relationships  J.A. Poulter, None; D.F. Gilmour, None; I.M. Carr, None; E. Sheridan, None; A.J. Churchill, None; A.F. Markham, None; H.C. Ardley, None; M. Ali, None; C.F. Inglehearn, None; C. Toomes, None.
  • Footnotes
    Support  The Royal Society and The Emma and Leslie Reid Scholarship (University of Leeds)
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2598. doi:
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      J. A. Poulter, D. F. Gilmour, I. M. Carr, E. Sheridan, A. J. Churchill, A. F. Markham, H. C. Ardley, M. Ali, C. F. Inglehearn, C. Toomes; Identification of a New Locus for Non-Syndromic Recessive Optic Atrophy on Chromosome 20 (ROA3). Invest. Ophthalmol. Vis. Sci. 2010;51(13):2598.

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Abstract

Purpose: : Non-syndromic recessive optic atrophy is a rare but under reported form of optic neuropathy. To date only one gene (TMEM126A) and locus (ROA1 on 8q) have been identified. The purpose of this study was to investigate a large consanguineous pedigree with multiple cases of optic atrophy.

Methods: : A whole genome autozygosity search was undertaken by processing DNA from affected family members with SNP microarrays and analysing the data using IBDfinder software. Candidate loci were confirmed by genotyping all available family members with microsatellites. Multipoint lod scores were calculated using Superlink.

Results: : SNP data identified two potential regions of homozygosity but further genotyping with microsatellites only confirmed one of these, a locus on chromosome 20p. Multipoint linkage analysis with these microsatellites produced a maximum lod score of 4.8. The refined locus spans 6-Mb between D20S160 and D20S161.

Conclusions: : We have identified a new locus for non-syndromic recessive optic atrophy on chromosome 20p which we have termed ROA3. Mutation screening of candidate genes from this region is currently being performed to identify the mutated gene. Correspondence: [email protected]

Keywords: retinal degenerations: hereditary • linkage analysis 
© 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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