[Genetic aspects in pigmentary retinopathy].
The analysis of 123 cases with pigmentary retinopathy shows in 26 cases hereditary transmission with the existence of several affected members within the same family (21.2%). The isolated cases represented 78.8% of the total number. From the 26 familial cases 24 (19.5% from the total) presented a recessive autosomal transmission, 1 case presented a dominant autosomal transmission (3.84%), and 1 case presented a recessive sex-related transmission (3.84%). The research of the family tree is necessary in all the cases with pigmentary retinopathy, in order to find the heterozigotes which carry the pathological gene and to efficiently make the profilaxy of the disease.
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Policlinica de copii hr. 2, Craiova.
D000293:Adolescent; D000328:Adult; D002648:Child; D004596:Electroretinography; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014794:Visual Fields
Aspecte genetice în retinopatia pigmentară.