CLINICAL SCIENCE Central areolar choroidal dystrophy associated with dominantly inherited drusen
نویسندگان
چکیده
B Jeroen Klevering, Marc van Driel, August J M van Hogerwou, Dorien J R van de Pol, August F Deutman, Alfred J L G Pinckers, Frans P M Cremers, Carel B Hoyng . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Central areolar choroidal dystrophy associated with dominantly inherited drusen.
AIM To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen. METHODS The members of three unrelated families who demonstrated the rare combination of CACD and dominant drusen were clinically and angiographically investigated. In addition, DNA samples from the members of these familie...
متن کاملCentral areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
PURPOSE Late-onset central areolar choroidal dystrophy (CACD) may easily be confused with geographic atrophy (GA) in AMD. To detect discerning features, the morphologic changes in CACD patients and in AMD patients were assessed with confocal scanning laser ophthalmoscopy (cSLO), fundus autofluorescence (FAF), and spectral-domain optical coherence tomography (SD-OCT). METHODS A total of 30 CAC...
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 کاملCross-sectional study of visual acuity and electroretinogram in two types of dominant drusen.
PURPOSE To compare the changes with increasing age of ERG parameters in relation to clinical data in two distinct phenotypes of genetically determined, dominantly inherited macular drusen: malattia leventinese (ML) and Zermatt macular dystrophy (ZMD). METHODS Ganzfeld rod- and cone-electroretinograms (ERGs) from 15 patients affected with ML and 14 patients with ZMD and clinical data were anal...
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...
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