Article
Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.
Molecular vision - 9 Dec 2010
Rosenberg Thomas, Roos Ben, Johnsen Thorkild, Bech Niels, Scheetz Todd E, Larsen Michael, Stone Edwin M, Fingert John H
Abstract excerpt
PURPOSE: To describe the phenotype of a family with an autosomal dominant macular dystrophy and identify the chromosomal location of the gene that causes this phenotype. METHODS: Twelve members of a three-generation family underwent routine clinical examination, including fundus photography. Four of the patients underwent extended examination with Goldmann perimetry, full-field electroretinogram, dark adaptation,...
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