Article
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.
Investigative ophthalmology & visual science - 1 Apr 2003
Michaelides Michel, Johnson Samantha, Poulson Arabella, Bradshaw Keith, Bellmann Caren, Hunt David M, Moore Anthony T
Abstract excerpt
PURPOSE: To describe the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus. METHODS: Eleven members of a five-generation, nonconsanguineous 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...
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