Purpose:Currently, there is no known cure for Retinitis pigmentosa (RP). Even if some treatments can slow down the progression of the disease, none of them can effectively stop retinal degeneration. We exploited the possibility of an early intervention in photoreceptor progenitors aiming at preventing cell death. For our purpose, we selected the Rd10 mouse model, which carries a point mutation ...

Retinitis Pigmentosa (RP) or Age-related Macular Degeneration (AMD) are leading causes of blindness worldwide. It has been shown that patients suffering from diseases like RP and AMD could recover partial vision by means of controlled electrical stimulations of the retina. Thus, a retinal prosthesis can be developed where the functionality of permanently damaged retinal photoreceptors is replac...

PURPOSE Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. METHODS We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigm...

The photoreceptor cell death associated with the various genetic forms of retinitis pigmentosa (RP) is currently untreatable and leads to partial or complete vision loss. Carnosic acid (CA) upregulates endogenous antioxidant enzymes and has proven neuroprotective in studies of neurodegenerative models affecting the brain. In this study, we examined the potential effect of CA on photoreceptor de...

PURPOSE Progressive rod-cone degeneration (PRCD) is a canine form of autosomal recessive photoreceptor degeneration and serves as an animal model for human retinitis pigmentosa (RP). To date, only two RP-causing mutations of the PRCD gene have been reported in humans. We found a novel mutation in PRCD (c.52C>T, p.R18X) in three siblings affected by RP and present detailed morphologic and functi...

PURPOSE The aim of this study was to elucidate the role of endothelin-1 (ET-1) in the pathophysiology of retinitis pigmentosa (RP). METHODS Plasma ET-1 levels and ophthalmic features in 50 RP patients were compared with those in 20 healthy-eye control subjects. Plasma ET-1 concentrations were determined using a commercially available enzyme-linked immunosorbent assay kit. RESULTS Mean plasm...

Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD). Methods WES was performed unaffected affected individuals within pedigree followed bioinformatic analyses these data to identify disease-causing variants damaging pathogenicity sc...

Reports have appeared of abnormal copper metabolism in retinitis pigmentosa, and of a family with vitelliform retinal degeneration in which other members suffered from hepatolenticular degeneration. In the present study 15 patients with retinitis pigmentosa, 4 with various other retinal degenerations, and 1 with a family disposition to retinitis pigmentosa were examined. The copper concentratio...

The level of retinol-binding protein (RBP) was determined by a single radial immunodiffusion technique in the serum of patients with retinitis pigmentosa (RP) carefully classified according to their specific genetic type, i.e., autosomally recessive, dominant, sex-linked, and other such as those forms associated with Laurence-Moon-Bardet-Biedl or Winkelman's disease. Highly purified human norma...

Macular edema (ME) in retinitis pigmentosa (RP) often impairs central vision dramatically. A 41-year-old woman diagnosed with RP was referred to our outpatient clinic due to severe visual deterioration in both eyes. The patient was treated with topical carbonic anhydrase inhibitors, topical corticosteroids and intravitreal triamcinolone acetonide injections, but her ME recurred. Intravitreal 0....