P 367 Two novel missense mutations of peripherin/RDS gene in autosomal dominant retinitis pigmentosa (ADRP), in pedigrees from France

نویسندگان

  • E. Souied
  • S. Gerber
  • J. M. Rozet
  • A. Camuzat
  • J. L. Dufier
  • G. Soubrane
  • G. Coscas
  • A. Munnich
  • J. Kaplan
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.

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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...

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Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.

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عنوان ژورنال:
  • Vision Research

دوره 35  شماره 

صفحات  -

تاریخ انتشار 1995