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(Investigative Ophthalmology and Visual Science. 2003;44:2178-2183.)
© 2003 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.02-1094
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An Early-Onset Autosomal Dominant Macular Dystrophy (MCDR3) Resembling North Carolina Macular Dystrophy Maps to Chromosome 5

Michel Michaelides,1 Samantha Johnson,1 Alok K. Tekriwal,3 Graham E. Holder,4 Caren Bellmann,1 Esther Kinning,5,6 Geoffrey Woodruff,3 Richard C. Trembath,5,6 David M. Hunt,1 and Anthony T. Moore1

1From the Institute of Ophthalmology, University College London, London, United Kingdom; the 3Department of Ophthalmology, Leicester Royal Infirmary, Leicester, United Kingdom; 4Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom; and the 5Departments of Medicine and 6Genetics, Division of Medical Genetics, University of Leicester, Leicester, United Kingdom.

PURPOSE. To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus.

METHODS. Thirteen members of a four-generation, nonconsanguineous British family were examined clinically and also underwent automated perimetry, fundus fluorescein angiography, and fundus autofluorescence imaging. After informed consent was obtained, blood samples were taken for DNA extraction, and genetic linkage analysis was performed.

RESULTS. The retinal changes have an early age of onset and are confined to the macular region. The macular abnormalities vary from mild retinal pigment epithelium (RPE) pigmentary change to atrophy. Drusen-like deposits are present to various degrees and are characteristic of the phenotype. Subretinal neovascular membrane (SRNVM) is an established complication. Genetic linkage analysis established linkage to chromosome 5, region p13.1-p15.33 with a maximum LOD score of 3.61 at a recombination fraction of 0.00 for marker D5S630. The locus for this autosomal dominant macular dystrophy lies between flanking markers D5S1981 and D5S2031.

CONCLUSIONS. A novel locus has been identified for early-onset autosomal dominant macular dystrophy on chromosome 5.




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