Retinitis pigmentosa (RP) is an incurable retinal degenerative disease with unknown mechanism of progression. Mer tyrosine kinase (MERTK), which encodes a receptor the Tyro3/Axl/Mer family kinases, one causal genes RP. MERTK reportedly expressed in pigment epithelium (RPE) and essential for phagocytosis photoreceptor outer segment. Here, we established induced pluripotent stem cells (iPSC) from...

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive loss of photoreceptors and eventually leads to retina degeneration and atrophy. Until now, the exact pathogenesis and etiology of this disease has not been clear, and many approaches for RP therapies have been carried out in animals and in clinical trials. In recent years, stem cell transplantation-...

PURPOSE To report two cases of retinitis pigmentosa (RP) associated with vasoproliferative tumors (VPTs) and Coats-like fundus. CASE REPORTS Two patients with RP presented with recent loss of vision due to combined VPTs and Coats-like retinal vascular alterations. One patient had two VPTs with adjacent capillary nonperfusion, telangiectasia and aneurysmal vascular changes in one eye. The othe...

PURPOSE To identify the genetic basis of disease in a Chinese family with retinitis pigmentosa (RP). METHODS Linkage analysis was performed for 15 family members in the RP family using microsatellite markers flanking candidate genetic loci for known autosomal dominant RP (adRP) and markers covering the entire X chromosome by every 10 cM. To screen for a mutation causing RP, PCR and DNA sequen...

A reversed phase parallel artificial membrane permeation assay (RP-PAMPA) was newly invented for log P measurement. An oil/water/oil sandwich was constructed using a conventional PAMPA instrument. 1 % agarose was used to improve the physical stability of the water phase. A linear correlation between log P and the apparent permeability was observed in the -0.24 < log P < 2.85 region (R 2 = 0.98)...

Purpose The apoptotic mechanisms responsible for secondary cone death in retinitis pigmentosa (RP) remain largely unknown. The cone-enriched apoptotic protease caspase-7 (Casp7) is thought to be triggered by endoplasmic reticulum (ER) stress and plays a pivotal role in mice deficient in the cone cyclic nucleotide-gated channels, a deficiency that causes achromatopsia in humans and in mice with ...

Although considered a rare retinal dystrophy, retinitis pigmentosa (RP) is the primary cause of hereditary blindness. Given its diverse genetic etiology (&gt;3000 mutations in &gt;60 genes), there an urgent need for novel treatments that target common features disease. TLR2 key activator innate immune response. To examine role RP progression we characterized expression profile Tlr2 and adaptor ...

PURPOSE To evaluate microarray-based genotyping technology for the detection of mutations responsible for retinitis pigmentosa (RP) and to perform phenotypic characterization of patients with pathogenic mutations. METHODS DNA from 336 patients with RP and 360 controls was analyzed using the GoldenGate assay with microbeads containing 95 previously reported disease-associated mutations from 28...

In a group of 46 patients with retinitis pigmentosa (RP) we studied the presence of circulating immune complexes (CIC) and the alterations in the complement system. Our results showed the presence of CIC in 43.5% of the patients studied, reduced levels of the complement components C3 and C4 (p less than 0.001), and of the haemolytic activity CH50 (p less than 0.001) when compared with a control...

DNA from members of an Irish pedigree presenting with late onset autosomal dominant retinitis pigmentosa (ADRP) have been typed with a series of genetic markers from chromosome 6p. Positive two-point lod scores have been obtained with five markers (D6S89: theta = 0.10, Z = 3.338; D6S109: theta = 0.10, Z = 3.932; D6S105: theta = 0.00, Z = 6.081; HLA-DRA: theta = 0.00, Z = 4.364; and RDS: theta =...