May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) That Maps to Chromosome 4p
Author Affiliations & Notes
  • M. Michaelides
    Dept of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • S. Johnson
    Dept of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A. Poulson
    Department of Ophthalmology, Addenbrooke's Hospital, Cambridge, United Kingdom
  • K. Bradshaw
    Department of Electrophysiology, Addenbrooke's Hospital, Cambridge, United Kingdom
  • C. Bellmann
    Department of Electrophysiology, Addenbrooke's Hospital, Cambridge, United Kingdom
  • D.M. Hunt
    Department of Electrophysiology, Addenbrooke's Hospital, Cambridge, United Kingdom
  • A.T. Moore
    Department of Electrophysiology, Addenbrooke's Hospital, Cambridge, United Kingdom
  • Footnotes
    Commercial Relationships  M. Michaelides, None; S. Johnson, None; A. Poulson, None; K. Bradshaw, None; C. Bellmann, None; D.M. Hunt, None; A.T. Moore, None.
  • Footnotes
    Support  British Retinitis Pigmentosa Society and the Guide Dogs for the Blind Association
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1495. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to Subscribers Only
      Sign In or Create an Account ×
    • Get Citation

      M. Michaelides, S. Johnson, A. Poulson, K. Bradshaw, C. Bellmann, D.M. Hunt, A.T. Moore; An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) That Maps to Chromosome 4p . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1495.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: To describe the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus. Methods: Eleven members of a three-generation, non-consanguineous British family were examined clinically and also underwent automated perimetry, electrodiagnostic testing, fundus fluorescein angiography and fundus autofluorescence imaging. Blood samples were taken for DNA extraction and linkage analysis was performed. Results: The phenotype is characterised by a ‘bull’s-eye’ macular dystrophy first evident in the first or second decade of life. There is mild visual impairment, central scotomata and electrophysiological testing indicates that most affected individuals have disease confined to the central retina but in older subjects the flash ERG demonstrates more widespread rod and cone abnormalities. Genetic linkage analysis established linkage to chromosome 4p15.2-p16.3 with a maximum LOD score of 3.03 at a recombination fraction of 0.00 for marker D4S391. The locus for this autosomal dominant macular dystrophy lies between flanking markers D4S3023 and D4S3022, and overlaps the Stargardt 4 locus. This region contains the candidate gene PROML1, encoding human prominin (mouse)-like 1 which belongs to the prominin family of five-transmembrane domain proteins. Mutation screening of PROML1 is currently in progress. Conclusions: We report a new locus for Bull’s-eye macular dystrophy on chromosome 4p.

Keywords: macula/fovea • linkage analysis • retina 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×