نتایج جستجو برای: congenital retinitis pigmentosa
تعداد نتایج: 128326 فیلتر نتایج به سال:
PURPOSE To determine the frequency and spectrum of mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein (CRALBP) in patients with hereditary retinal degeneration. METHODS The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were used to screen the coding exons of this gene (exons 2-8) for mutations in 324 unrelated patie...
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population. A majority of the genes which are mutated in these conditions are expressed in either photoreceptors or the retinal pigment epithelium (RPE). There is considerable variation in the clinical severity of these conditions; the most sever...
(PVR), macular degeneration, and retinitis pigmentosa (RP), can lead to blindness without timely treatment. Vascular endothelial growth factor (VEGF) has been identified as a key promoting vascular leakage angiogenesis, making neutralization of VEGF the first-line therapy for ischemic retinopathies such DR retinal occlusions. However, not all patients with these respond anti-VEGF therapy, neces...
Using multiple sources, an attempt was made to ascertain all symptomatic cases of retinitis pigmentosa living in the City of Birmingham in June 1978. These methods revealed a prevalence for all ages of 1 in 4869 and a prevalence in the age group 45 to 64 years of 1 in 3195. There was a higher prevalence than expected among young Muslims with consanguineous parents. However, the most accurate pr...
PURPOSE To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. METHODS Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing. RESULTS Mutations were identified in 94% of our study cohort, including seven that ...
Retinitis pigmentosa is characterized by loss of night vision, followed by complete blindness. Over 40 genetic loci for retinitis pigmentosa have been identified in humans, primarily affecting photoreceptor structure and function. The availability of excellent animal models allows for a mechanistic characterization of the disease. Metabolic dysregulation and oxidative stress have been found to ...
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