نتایج جستجو برای: linked retinitis pigmentosa
تعداد نتایج: 243752 فیلتر نتایج به سال:
Retinitis pigmentosa (RP) is the generic name for a group of hereditary disorders characterized by progressive loss of photoreceptors and RPE function. The classical triad of retinitis pigmentosa is arteriolar attenuation, retinal bone spicule pigmentation and waxy disc pallor. Lebers congenital amaurosis (LCA) is the hereditary form of retinitis pigmentosa. It presents with blindness either at...
An enzyme-linked immunosorbent assay (ELISA) using four recombinant antigens of Toxoplasma gondii (rP22, rP25, rP29, and rP35) was used in an attempt to differentiate pregnant women with toxoplasma serologic profiles (TSPs) indicative of recently acquired infections (acute profile) from those with TSPs indicative of infections acquired in the distant past (chronic profile). In general, immunogl...
The authors presented a clinical case of retinitis punctate albescens in a 26-year-old female patient, with a family history of typical retinitis pigmentosa (father) and bilateral cystoid macular edema treated with anti-VEGF (bevacizumab).
Kostas Sombolos, Mavrokordatou 17, GR-546 45 Thessaloniki (Greece) Dear Sir, Although many hereditary renal diseases have been described in association with retinitis pigmentosa [1,2], the combination of adult polycystic kidney disease and retinitis pigmentosa has not yet been reported. We herein report the first case of retinitis pigmentosa in an adult patient with polycystic kidney disease wh...
OBJECTIVE To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families. METHODS Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. Blood samples were collected from all participating family members, and genomic DNA was extracted....
Objective: To assess the depression prevalence and its potential correlation with visual loss in patients with retinitis pigmentosa. Methods: Fifty-five patients with retinitis pigmentosa and 32 ageand sex-matched healthy individuals were recruited in this case-control study. All participants underwent a complete ophthalmological examination, which included measurement Best-corrected visual acu...
Rod ERGs were measured at three times of day over an extensive range of retinal illuminances in six light-entrained patients with autosomal recessive or isolate forms of retinitis pigmentosa and at five times of day in six light-entrained normal volunteers. B-wave amplitude versus retinal illuminance functions from each time of day were described by determining the parameters of the best-fit Na...
OBJECTIVE To evaluate corneal endothelium in patients with retinitis pigmentosa using confocal microscopy, and compare their results with those of healthy controls. METHODS This comparative study took place between June 2009 and June 2011 in the Department of Ophthalmology, Selcuk University Faculty of Medicine, Konya, Turkey. We evaluated both eyes of 17 patients with retinitis pigmentosa (...
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