Structure/function variability in RPGR-associated retinal dystrophy
نویسندگان
چکیده
منابع مشابه
Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy
PURPOSE To quantify retinal structure and progression using spectral-domain optical coherence tomography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigmentosa GTPase regulator gene (RPGR) mutations. DESIGN Retrospective observational case series. METHODS Setting: Moorfields Eye Hospital, London, United Kingdom. SUBJECTS Both eyes of 32 patients. SDOCT fol...
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PURPOSE We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model. METHODS XLRP patients with RPGR-ORF15 mutations (n = 35, ages at first visit 5-72 years) had clinical examinations, and rod and cone perimetry. Rpgr-cko mice, in which the proximal promoter and first exon...
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ژورنال
عنوان ژورنال: Journal of Vision
سال: 2014
ISSN: 1534-7362
DOI: 10.1167/14.15.34