title: [Late congenital glaucoma and pigmentary retinopathy].
abstract: Two clinical observations of pigmentary retinopathy associated with late congenital glaucoma are presented. This associations is rarely emphasized in the literature, the most frequent association being of the pigmentary retinopathy and open angle glaucoma. In the former observation a genetical filiation could not been established. In the latter the heredity was autosomal recessive, with two existent distinct pathological genes. The genetic defect in pigmentary retinopathy with dominant autosomal transmission is supposed to be localized on the codon 216 Ser-->Pro or at the level of the codon 296 by the substitution Lys-->Glu and Lys-->Met for the some determination, but done in vitro. In the recessive form the abnormal alleles are localized in the interval D11 5861 and D11 5899.
authors.affiliation: Policlinia C.F.R. Craiova.
authors.forename: R
authors.initials: R
authors.lastname: Ghenoiu
authors.forename: N
authors.initials: N
authors.lastname: Khader
mesh_terms: D000328:Adult; D005260:Female; D005902:Glaucoma, Open-Angle / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D013997:Time Factors
vernacular_title: Glaucom congenital tardiv şi retinopatie pigmentară.