P 367 Two novel missense mutations of peripherin/RDS gene in autosomal dominant retinitis pigmentosa (ADRP), in pedigrees from France
نویسندگان
چکیده
PURPOSE. Light microscopic and ultrastructural studies were perfomed in the human epiretinal membranes secondary to proliferative vitreoretinopathy (PVR).HETRODS.Humanpreretinal membranes from 5 eyes with PVR were obtained by vitrectomy. These membranes were processed for inmunohistochemical (GFAP) and electron microscopy studies to study the morphology and the cell composition. RESULTS. Light microscopic studies manifested a preretinal membrane with indiferenciated glial cells and some macrophage and retinal pigment epithelial celli. Ultrastructural studies showed mainly glialcells with intermediate filaments that stained with GPAP and retinal pigment epithelial cells. The extracellular matrix was mainly composed of collage". CONCLUSIONS. The qlla is the main cell component found in the human preretinal membranes from eyes with postsurgical PVR.
منابع مشابه
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
PURPOSE Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy. METHODS Ophthalmic and electrophysiological examination was performed in pa...
متن کاملDetection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
AIMS To develop a sensitive mutation screening procedure suitable for routine analysis of the peripherin/RDS gene, and to estimate the nature and prevalence of peripherin/RDS gene mutations in Swedish patients with autosomal dominant retinitis pigmentosa. METHODS To make the method as sensitive as possible, as many as eight segments, covering the three exons and the flanking intron sequences ...
متن کاملAnalysis of peripherin/RDS gene for Japanese retinal dystrophies.
We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. The patients analyzed included 52 with autosomal dominant retinitis pigmentosa, 36 with autosomal recessive retinitis pigmentosa, 3 with simplex retinitis pigmentosa, 12 with cone-rod dystrophy, 5 with rod-cone dystrophy, 3 with vitelliform macular dystrophy (Best's disea...
متن کاملAutosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.
DNA from members of an Irish pedigree presenting with late onset autosomal dominant retinitis pigmentosa (ADRP) have been typed with a series of genetic markers from chromosome 6p. Positive two-point lod scores have been obtained with five markers (D6S89: theta = 0.10, Z = 3.338; D6S109: theta = 0.10, Z = 3.932; D6S105: theta = 0.00, Z = 6.081; HLA-DRA: theta = 0.00, Z = 4.364; and RDS: theta =...
متن کاملA linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
Autosomal dominant retinitis pigmentosa (ADRP) is caused by mutations in two known genes, rhodopsin and peripherin/Rds, and seven loci identified only by linkage analysis. Rhodopsin and peripherin/Rds have been estimated to account for 20-31% and less than 5% of ADRP, respectively. No estimate of frequency has previously been possible for the remaining loci, since these can only be implicated w...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Vision Research
دوره 35 شماره
صفحات -
تاریخ انتشار 1995