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...

OBJECTIVE To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene. METHODS Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent furth...

BACKGROUND The purpose of this study was to examine cone photoreceptors in the macula of patients with retinitis pigmentosa using an adaptive optics fundus camera and to investigate any correlations between cone photoreceptor density and findings on optical coherence tomography and fundus autofluorescence. METHODS We examined two patients with typical retinitis pigmentosa who underwent ophtha...

Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previou...

PURPOSE Identification of a novel rhodopsin mutation in a family with retinitis pigmentosa and comparison of the clinical phenotype to a known mutation at the same amino acid position. METHODS Screening for mutations in rhodopsin was performed in 78 patients with retinitis pigmentosa. All exons and flanking intronic regions were amplified by PCR, sequenced, and compared to the reference seque...