Functional Analysis of Missense Mutations in Kv8.2 Causing Cone Dystrophy with Supernormal Rod Electroretinogram
نویسندگان
چکیده
منابع مشابه
Novel 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 کاملPhenotypic 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 compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.
seemedtobedark.Thenarrowingof the retinalvesselsanddisc pallor diminished gradually over time. In the late phase of the attack (after 1 minute 28 seconds), the retinal vessels were dilated and the disc was hyperemic. Video 2 and Video 3 show the reperfusionof the retinal circulation in the late phase. The images obtained immediately after the attack (Figure 2) show thedilatedretinalvessels in t...
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...
متن کاملFunctional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
Mutations in the photoreceptor transcription factor cone-rod homeobox (CRX) have been identified in patients with several forms of retinal degenerative disease. To investigate the mechanisms by which these mutations cause photoreceptor degeneration, CRX constructs representing eleven known mutations, as well as a set of C-terminal deletions, were generated and tested for their ability to activa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2012
ISSN: 0021-9258
DOI: 10.1074/jbc.m112.388033