1141 Linkage studies in a large family with central areolar choroidal dystrophy
نویسندگان
چکیده
lbpauz To study the prevalence aad causes of blindness and low vision in a middle-aged and elderly population of the NOtlWlands. MetlrodrIn a single center prospective follow-up study in Rotterdam, 6178 subjects of 55 years and older underwent a complete ophthalmological examination. The grade of visual impairment was classified according to WHO-standards: subjects with best-corrected visual acuity c 0.05 in the better eye were defined as blind, subjects with visual acuity < 0.3 in the better eye were defined as affected by low vision. Ruu& We identified 32 subjects who were blind io both eyes. Overall prevalence of blindness was 0.5%. raaghg from 0.1% in subjects under 60 years to 3.9% in subjects of 85 years and older. Prevalence of low vision was 1.4%, ranging from 0.2% to 12.0%. Major causes of blindness were agerelated macular degeneration (55%). myopic degeneration (7%), glaucoma (7%), cataract (7%), and a combination of the above pathology (17%). conduh~ Age-related macular degeneration is by far the major cause of severe visual impairment in this predominantly white population of 55 years and older. ANTERIOR SRGMEVT EYR INFECTIONS DUGNOSTIC TRENDR IN A umvERRITYEYEcLlN1c
منابع مشابه
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.
Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade. We have identified a Northern Irish family with 19 affected individuals in three living generations. We have performed a total genome search and established linkage of CACD in this family to chromosome 17p (multipoint Zmax = 5.65 at...
متن کاملAutosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
PURPOSE Because several macular dystrophies are caused by mutations in the peripherin/RDS gene, we examined autosomal dominant and sporadic cases of central areolar choroidal dystrophy for mutations in the peripherin/RDS gene. METHODS DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families wi...
متن کاملFine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.
Central areolar choroidal dystrophy (CACD) is a retinal disease which causes progressive profound loss of vision in patients during middle age. The disease is inherited as an autosomal dominant trait and shows genetic heterogeneity. Mutations in the peripherin-RDS gene on chromosome 6 have been reported in affected members of families transmitting the disease. A new locus at chromosome 17p13 wa...
متن کاملClinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
OBJECTIVE To characterize clinical findings associated with a mutation in codon 195 (Arg195Leu) of the peripherin/RDS gene in a large multigeneration family of European decent. METHODS Sixteen members from 2 generations underwent ophthalmologic examination, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic myd...
متن کاملLocalisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.
We have performed genetic linkage analysis on a four generation British family with cone-rod dystrophy. Significant linkage to the disease gene was obtained with eight marker loci situated on chromosome 17p12-p13. A maximum two-point lod score of 5.93 with no recombination was obtained with marker locus D17S1844. Critical recombinants identified with flanking marker loci placed the disease gene...
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عنوان ژورنال:
- Vision Research
دوره 35 شماره
صفحات -
تاریخ انتشار 1995