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Epidemiology of retinitis pigmentosa in the valencian community (Spain)

✍ Scribed by Dra. C. Nájera; J. M. Millán; M. Beneyto; F. Prieto

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
595 KB
Volume
12
Category
Article
ISSN
0741-0395

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✦ Synopsis

The purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (3 1.8%) while the X-linked type was very rare ( I .5%). The frequency of autosomal dominant type was 14.4% and the simplex cases constituted half of the total cases of RP registered in our community. In conclusion, in our population the high proportion of simplex cases and the low number of X-linked families are noticeable. The result of segregation analysis showed good agreement with expectation in autosomal dominant and autosomal recessive families but no inore than 60% of all simplex cases were autosomal recessive. The proportion of sporadic cases was estimated statistically to be 39.9% of the total simplex cases. o 1995 Wiky-Liss. Inc.

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