Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”
نویسندگان
چکیده
منابع مشابه
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
PURPOSE To report phenotypic characteristics including macular cone photoreceptor morphology in KCNV2-related "cone dystrophy with supernormal rod electroretinogram" (CDSR). METHODS Seven patients, aged 9 to 18 years at last visit, with characteristic full-field electroretinographic (ERG) features of CDSR were screened for mutations in the KCNV2 gene. All patients underwent detailed ophthalmo...
متن کاملNovel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
PURPOSE To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene. DESIGN Clinical and molecular study. METHODS Patients from three families originating from France, Morocco, and Algeria had standard ophthalmologic examination and color vision analysis, Goldmann perimetry, International Society for Clin...
متن کاملRod and cone photoreceptor function in patients with cone dystrophy.
PURPOSE To determine the extent of rod and cone photoreceptor dysfunction in patients with cone dystrophy using psychophysical and electrophysiological tests. METHODS Ten patients with cone dystrophy participated. Rod and cone system psychophysical thresholds were measured as a function of retinal eccentricity. Bright-flash full-field electroretinograms were obtained under dark-adapted (rod-m...
متن کاملMutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII). Analysis of the proband from a family with autosomal dominant CORD revealed an Arg41Trp substitution in the third residue of the CRX homeodomain. ...
متن کاملAutosomal dominant cone-rod dystrophy with negative electroretinogram.
AIMS The negative electroretinogram (ERG) is observed in many hereditary retinal disorders. However, no reports have described a negative ERG in a family with autosomal dominant cone-rod dystrophy. A Japanese family with autosomal dominant cone-rod dystrophy with negative ERG is described. METHOD Members of a Japanese family with autosomal dominant cone-rod dystrophy were examined and evaluat...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2013
ISSN: 1552-5783
DOI: 10.1167/iovs.12-10971