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 (...

Rod-derived Cone Viability Factor (RdCVF) is a trophic factor with therapeutic potential for the treatment of retinitis pigmentosa, a retinal disease that commonly results in blindness. RdCVF is encoded by Nucleoredoxin-like 1 (Nxnl1), a gene homologous with the family of thioredoxins that participate in the defense against oxidative stress. RdCVF expression is lost after rod degeneration in th...

Diseases of the retina are the leading causes of blindness throughout the world. Evidence points to potential benefit from nutritional and botanical interventions for the prevention and treatment of several of these conditions, including macular degeneration, diabetic retinopathy, retinopathy of the newborn, and retinitis pigmentosa. Epidemiological evidence points to the potential of antioxida...

AIMS To develop a sensitive mutation screening procedure suitable for routine analysis of the peripherin/RDS gene, and to estimate the nature and prevalence of peripherin/RDS gene mutations in Swedish patients with autosomal dominant retinitis pigmentosa. METHODS To make the method as sensitive as possible, as many as eight segments, covering the three exons and the flanking intron sequences ...

We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. The patients analyzed included 52 with autosomal dominant retinitis pigmentosa, 36 with autosomal recessive retinitis pigmentosa, 3 with simplex retinitis pigmentosa, 12 with cone-rod dystrophy, 5 with rod-cone dystrophy, 3 with vitelliform macular dystrophy (Best's disea...

Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...