Article
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
Investigative ophthalmology & visual science - 1 Jun 2002
Klevering B Jeroen, Blankenagel Anita, Maugeri Alessandra, Cremers Frans P M, Hoyng Carel B, Rohrschneider Klaus
Abstract excerpt
PURPOSE: To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene. METHODS: The charts of patients who had originally received a diagnosis of isolated or autosomal recessive CRD were reviewed after molecular analysis revealed mutations in the ABCA4 gene. RESULTS: In two of the patients both the...
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