Novel Mutation in BEST1 Associated With Retinoschisis
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چکیده
منابع مشابه
Novel mutation in BEST1 associated with retinoschisis.
Best vitelliform macular dystrophy (BVMD) is caused by mutations in BEST1 (also known as VMD2; OMIM 153700) on the long arm of chromosome 11. An array of BEST1 phenotypes have now been characterized, including microcornea, rodcone dystrophy, early-onset catar ac t , pos t e r io r s t aphy loma syndrome, vitreoretinochoroidopathy, and adult-onset foveomacular vitelliform dystrophy. BEST1 encode...
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Purpose There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. Here, we present a patient with a clinical phenotype consistent with classic features of RP. Obser...
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PURPOSE To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence ima...
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متن کاملNovel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort
Program Number: 6585 Poster Board Number: D0356 Presentation Time: 11:00 AM–12:45 PM Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort Kirk Stephenson1, Matthew Carrigan2, Paul Kenna3, 2, G Jane Farrar2, David Keegan1. 1Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland; 2Trinity College Dublin, Dublin, Ireland; 3Ophthalmology, Royal Victoria Eye & Ear Hospital, ...
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ژورنال
عنوان ژورنال: JAMA Ophthalmology
سال: 2013
ISSN: 2168-6165
DOI: 10.1001/jamaophthalmol.2013.2047