نتایج جستجو برای: rpgr gene
تعداد نتایج: 1141474 فیلتر نتایج به سال:
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...
PURPOSE To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women. METHODS Comprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely af...
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