High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa
نویسندگان
چکیده
منابع مشابه
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Purpose Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. This study analyzed the utility of relevant clinical biomarkers to assess symmetry and rate of progression in XLRP3. Methods A retrospective, cross-sectional analysis of 50 XLRP3 patients extracted clinical da...
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BACKGROUND The purpose of this study was to determine visual acuity at different contrast levels under photopic and mesopic conditions in patients with retinitis pigmentosa. METHODS Sixty eyes of 31 normal controls, 92 eyes of 52 patients with retinitis pigmentosa without other ocular disorders (RP-1 group), and 20 eyes of 14 patients with retinitis pigmentosa with cataracts and without other...
متن کاملVisual acuity vs letter contrast sensitivity in retinitis pigmentosa
This study examined the quantitative relationship between foveal visual acuity and contrast sensitivity for large-letter optotypes in a group of patients with retinitis pigmentosa (RP), in order to assess more completely the extent of foveal vision loss in this group of hereditary retinal dystrophies. High-contrast visual acuity and large-letter contrast sensitivity were measured with a compute...
متن کاملA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).
The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic localization of cone opsins in the cell body and synapses and rod photoreceptors have a red...
متن کاملX-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
PURPOSE To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of patients with mutations in RPGR versus RP2. METHODS Eighty-five unrelated patients with XLRP were ascertained, mainly from North America. The single-strand conformation polymorphism (SSCP) and a direct sequencing technique were used ...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2017
ISSN: 1552-5783
DOI: 10.1167/iovs.17-22077