May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Genetic Linkage Analysis of a Novel Syndrome Comprising North Carolina-like Macular Dystrophy and Sensori-neural Hearing Loss
P.J. Francis; S. Johnson; B. Edmunds; R. Kelsell; G.E. Holder; D.M. Hunt; A.T. Moore
Author Affiliations & Notes
  • P.J. Francis
    Molecular Genetics, Institute Ophthalmology, London, United Kingdom
  • S. Johnson
    Molecular Genetics, Institute Ophthalmology, London, United Kingdom
  • B. Edmunds
    Moorfields Eye Hospital, London, United Kingdom
  • R. Kelsell
    Moorfields Eye Hospital, London, United Kingdom
  • G.E. Holder
    Moorfields Eye Hospital, London, United Kingdom
  • D.M. Hunt
    Moorfields Eye Hospital, London, United Kingdom
  • A.T. Moore
    Moorfields Eye Hospital, London, United Kingdom
  • Footnotes
    Commercial Relationships  P.J. Francis, None; S. Johnson, None; B. Edmunds, None; R. Kelsell, None; G.E. Holder, None; D.M. Hunt, None; A.T. Moore, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1494. doi:
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      P.J. Francis, S. Johnson, B. Edmunds, R. Kelsell, G.E. Holder, D.M. Hunt, A.T. Moore; Genetic Linkage Analysis of a Novel Syndrome Comprising North Carolina-like Macular Dystrophy and Sensori-neural Hearing Loss . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1494.

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Abstract

Abstract: : Purpose: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy. Methods: Details of the family were obtained from the Moorfields Eye Hospital genetic clinic database and comprised 8 affected, 4 unaffected members and 2 spouses. Pedigree data were collated and leukocyte DNA extracted from venous blood. Positional-candidate gene and genetic linkage strategies utilising PCR-based microsatellite marker genotyping were performed to identify the disease locus. Results: The non-progressive ocular phenotype shared similarities with North Carolina macular dystrophy. Electro-oculography and full-field electroretinography were normal. Progressive sensorineural deafness was also present in all affected individuals over the age of 20 years. Hearing was normal in all unaffected relatives. Haplotype analysis indicated that this family is unrelated to previously reported families with NCMD. Genotyping excluded linkage to the MCDR1 locus and suggested a potential novel disease locus on chromosome 14q (Z=2.92 at θ=0 for marker D14S261). Conclusions: The combination of anomalies segregating in this family represents a novel phenotype. Our molecular analysis indicates the disease is genetically distinct from NCMD.

Keywords: retinal degenerations: hereditary • gene mapping • macula/fovea 
© 2003, 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 © 2024 Association for Research in Vision and Ophthalmology.
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