Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and ide...

We report a case of new onset retinitis pigmentosa (RP) associated with a glucose-6-phosphate dehydrogenase (G6PD) deficiency in a 63-year-old African-American male who presented with worsening night vision over a period of five years. The pathogenesis of G6PD-mediated oxidative biological damage is reviewed and a mechanism for the onset of retinal disease proposed.

Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...

INTRODUCTION Primary ciliary dyskinesia (PCD) is a rare disease classically transmitted as an autosomal recessive trait and characterised by recurrent airway infections due to abnormal ciliary structure and function. To date, only two autosomal genes, DNAI1 and DNAH5 encoding axonemal dynein chains, have been shown to cause PCD with defective outer dynein arms. Here, we investigated one non-con...

Copyright: © 2013 Shu X. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Retinitis Pigmentosa (RP) is a group of heterogeneous genetic disorders with a worldwide prevalence of 1 in 4000 individuals [1]. RP can...

BACKGROUND Retinitis pigmentosa (RP) is a blinding genetic disorder that is caused by the death of photoreceptors in the outer nuclear layer of the retina. To date, 39 different genetic loci have been associated with the disease, and 28 mutated genes have been identified. Despite the complexity of the underlying genetic basis for RP, the final common pathway is photoreceptor cell death via apop...

Background: Causes of blindness in children vary according to the region and socioeconomic development. Within a given country these causes vary with passage of time. This reflects different levels of socioeconomic development and provision of healthcare services. This cross-sectional study was undertaken to estimate the major causes of severe visual impairment in children and specially prevent...

1 The abbreviations used are: SNP, sodium nitroprusside; CR-6, 3,4-dihydro-6-hydroxy7-methoxy-2,2-dimethyl-1(2H)-benzopyran; ROS, reactive oxygen species; zVAD-fmk, (zVal-Ala-Asp-fluoro-methyl ketone); RP, retinitis pigmentosa; RNS, reactive nitrogen species; NOS, nitric oxide synthase; BHT, butylated hydroxytoluene; NAC, N-Acetyl-LJBC Papers in Press. Published on June 21, 2004 as Manuscript M...

__________________________________________________________________________________________________ Correspondence: Andrius Kazlauskas, Tel: (617) 912-2517; Fax (617) 912-0111; E-mail: [email protected] Abbreviations: ARMD, age-related macular degeneration; C.F.U., Colony forming unit; ERG, retino-electrogram; PDE, phosphodiesterase; RPE, retinal pigment epithelial; PDR, prolifer...

A male patient with retinitis pigmentosa (RP) accompanied by repeated vitreous hemorrhage in both eyes underwent unilateral vitrectomy. Visual acuity recovered to 0.8 in the operated right eye, and no hemorrhage, complications or progression of RP were observed. Fluorescein angiography performed 2 months after surgery detected neovascularization at the optic disc in the operated right eye, but ...