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Revista Cubana de Oftalmología
versão On-line ISSN 1561-3070
Resumo
DYCE GORDON, Elisa; MAPOLON ARCENDOR, Yolanda e DYCE GORDON, Beatriz. Inheritance of retinitis pigmentosa in the province of Camagüey. Rev Cubana Oftalmol [online]. 1999, vol.12, n.1, pp. 0-0. ISSN 1561-3070.
A descriptive study of 354 affected individuals distributed in 190 families from Camagüey was conducted aimed at classifying those patients with retinitis pigmentosa and their families according to inheritance and at showing the value of such classification. The necessary data were obtained by interviews and genealogical analysis. A descriptive statistics was presented based on chi square test and statistical probability test. 36,65 % of the families were represent by the cases with indefinite (simple) inheritance followed by recessive autosomal inheritances (27,75 %) and dominant autosomal inheritance (24,60 %). The latter with 87 % of penetrance. The association of consanguinity with the recesive inheritances was statistically significant (p < ,005). 231 new diagnosis (39,75 %) were made among the 581 patients who were examined. Knowing the ways of inheritance of retinis pigmentosa of each patient and this family is very important for screening the affected individuals and for preventing the disease
Palavras-chave : RETINITIS PIGMENTOSA [genetics]; RETINITIS PIGMENTOSA [prevention & control].