نتایج جستجو برای: rpgr gene

تعداد نتایج: 1141474  

2017
James J.L. Tee Joseph Carroll Andrew R. Webster Michel Michaelides

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...

2014
Bohdan Kousal Pavlina Skalicka Lucie Valesova Tracy Fletcher Niki Hart-Holden Anna O'Grady Christina F. Chakarova Michel Michaelides Alison J. Hardcastle Petra Liskova

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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