PubMed期刊
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作者:Vaclavik Veronika , Nagiel Aaron ...
来源:[J].Retinal cases & brief reports, 2017, Vol.11 Suppl 1, pp.S113-S120PubMed
摘要:To describe the multimodal imaging findings, including optical coherence tomography angiography analysis, and spectrum of etiologies associated with Amalric triangular choroidal infarction.;;This study is a multicenter, retrospective, observational case series review of the clini...
作者:... Munier Francis L , Tran Viet H , Vaclavik Veronika
来源:[J].Ophthalmic genetics, 2018, Vol.39 (1), pp.80-86PubMed
摘要:To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants.;;Two patients, a father and his daughter, harboring a novel p.PRPF8-Glu2331* variant, underwent ophthalmic examination at 3-year-interval, inclu...
作者:Vaclavik Veronika , Tran Viet H ...
来源:[J].Human molecular genetics, 2016, Vol.25 (20), pp.4546-4555PubMed
摘要:Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we ident...
作者:Vaclavik Veronika , Tran Hoai V ...
来源:[J].Retina, 2012PubMed
摘要:OBJECTIVE: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization as...
作者:Vaclavik Veronika , Gaillard Marie-Claire ...
来源:[J].Molecular Vision(IF 1.987), 2010, Vol.16, pp.467-75PubMed
摘要:To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the...
作者:Vaclavik Veronika , Vujosevic Stela ...
来源:[J].Ophthalmology, 2007, Vol.115 (2), pp.342-6PubMed
摘要:To determine if integrity of the retinal pigment epithelium (RPE)/photoreceptor complex as assessed by autofluorescence imaging can be predicted on the basis of visual acuity (VA), size, or fluorescein angiographic characteristics of the lesion in the early stage of choroidal neo...
作者:Vaclavik Veronika , Borruat Francois X ...
来源:[J].Investigative Ophthalmology & Visual Science, 2012, Vol.53 (8), pp.4754-64PubMed
摘要:Purpose. We reported an unusual appearance of fundus autofluorescence (FAF) associated with NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP). Methods. Patients were enrolled among three generations in a Swiss family. Molecular diagnosis identified a c.166G > A (...

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