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Title: [Degenerative ocular retinal albinism in a girl ten years old (author's transl)]. Author: Franceschetti A, Fiore C, Korol S, Klein D. Journal: Klin Monbl Augenheilkd; 1978 Apr; 172(4):484-7. PubMed ID: 651216. Abstract: Ocular albinism with myopia and impaired vision (R.E. 0.2; L.E. 0.6), but without nystagmus, were observed in a 10-year-old girl. The electrophysiological tests indicate, in addition, the presence of a tapetoretinal degeneration. It is assumed that the patient is carrier of two genes, a sex-linked one responsible for albinismus solum fundi and a second one of autosomal-recessive type, responsible for the tapetoretinal degenerartion.[Abstract] [Full Text] [Related] [New Search]