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...

An electroretinographic (ERG) technique is described in which the relationship between scotopic b wave amplitude and stimulus light intensity is determined. The relative amplitude of scotopic to photopic responses is assessed by means of red light and flicker. The method is applied to the detection of ERG abnormalities in heterozygotes for X-linked retinitis pigmentosa. These have been found in...

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...

INTRODUCTION Retinitis pigmentosa (RP) is the most prevalent group of inherited retinopathies and demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and to identify the disease-causing gene/locus. MATERIALS AND METHODS Ophthalmic exa...

An affected boy and two carrier women in a family with sex-linked retinitis pigmentosa have reduced early receptor potential (ERP) amplitudes compared to normals. The decrease in ERP amplitudes localizes a defect in the receptor outer segments. The ERP of the affected boy is reduced to less than 20 per cent of normal. This indicates that both receptor systems are involved in his degeneration. T...

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...