Article
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
Investigative ophthalmology & visual science - 28 Dec 2011
Stone Edwin M, Luo Xunda, Héon Elise, Lam Byron L, Weleber Richard G, Halder Jennifer A, Affatigato Louisa M, Goldberg Jacqueline B, Sumaroka Alexander, Schwartz Sharon B, Cideciyan Artur V, Jacobson Samuel G
Abstract excerpt
PURPOSE: To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene. METHODS: Patients with RP and MAK gene mutations (n = 24; age, 32-77 years at first visit) were studied by ocular examination, perimetry, and optical coherence tomography (OCT). RESULTS: All but one MAK patient were homozygous for an identical...
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