Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
نویسندگان
چکیده
منابع مشابه
Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
We report the second family recognised to have autosomal dominant vitreoretinochoroidopathy. The clinical features were (1) autosomal dominant inheritance; (2) peripheral, coarse pigmentary degeneration of the fundus for 360 degrees, with a relatively discrete posterior border in the equatorial region (this finding may be pathognomonic); (3) superficial punctate yellowish-white opacities in the...
متن کاملMutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
PURPOSE To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos. METHODS A combination of linkage analysis and DNA sequencing in five families was used to identify disease-causing mutations in VMD2. The effect of these mutations on splicing ...
متن کاملMislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the Bestrophin1 (BEST1) gene, which encodes a transmembrane protein thought to function as an ion channel in the basolateral membrane of r...
متن کاملAcrodysostosis: autosomal dominant transmission.
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
متن کاملAutosomal dominant exudative vitreoretinopathy.
Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progre...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1984
ISSN: 0007-1161
DOI: 10.1136/bjo.68.1.2