Retinitis pigmentosa
Autosomal dominant retinitis pigmentosa: mutation screen rhodopsin and indentification of a new genetic locus
... Vertebrate photoreceptors have a unique morphology which is designed for the trapping of light photons and transmission of signals to post synaptic neurons. This mechanism involves processes which were found to be highly ...
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Gene panel sequencing in Brazilian patients with retinitis pigmentosa
... 17. Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Whea- ton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, ...
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The effect of transcorneal electrical stimulation in visual acuity: Retinitis pigmentosa
... Transcorneal Electrical Stimulation (TES) was ap- plied to a group of volunteer patients suffering from Retinitis Pigmentosa (RP), in order to investigate the effect of TES in Visual Acuity (VA). 28 partial ...
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Original Article A distinct form of retinitis pigmentosa with retinal vascular occlusion
... Exome sequencing [16-26] was performed in 8 blood samples (6 from patients, and 2 from 1 patient’ parents). We tried to find the potential sites and pathogenic genes considering the real clinical experience [27-37]. ...
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A Simulation based Approach for Detection of Retinitis Pigmentosa using Protein Synthesis
... humankind. Retinitis pigmentosa is a clinically and genetically heterogeneous group of hereditary disorders in which there is progressive loss of photoreceptor and pigment epithelial ...of retinitis ...
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
... Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional ...
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Evaluation of contrast visual acuity in patients with retinitis pigmentosa
... with the “distance” in CAT-CP as “long”. In addition to that, we have adjusted the result statistically by using ANCOVA analysis. Thus, we believe that comparison of the two methods would be feasible. However, in a ...
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Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study
... Abbreviations adRP: Autosomal Dominant Retinitis Pigmentosa; arRP: autosomal Recessive Retinitis Pigmentosa; CME: Cystoid macular edema; ERG: electroretinography; ERM: Epiretinal Membran[r] ...
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Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial
... Here, we report the results of the Transcorneal Electrical Stimulation for the treatment of retinitis pigmentosa Open Label multicentre UK study exploring primarily the safety and sec[r] ...
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Efficacy of additional topical betamethasone in persistent cystoid macular oedema after carbonic anhydrase inhibitor treatments in retinitis pigmentosa
... Methods and analysis This retrospective cohort study included 16 eyes of 10 patients with retinitis pigmentosa (RP). All patients were previously administered CAI for at least 3 months to treat CMO ...
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Retinitis pigmentosa and allied conditions today: a paradigm of translational research
... handicap. Retinitis pigmentosa is a type of retinal dystrophy where degeneration of rod photoreceptors occurs at the early ...with retinitis pigmentosa, but post-genomic studies are allowing ...
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A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation
... The relevant new finding in our family is the presence of retinitis pigmentosa. Although RP is not a typical pre- sentation for Stargardt type 3, previous work on the more common autosomal recessive form of ...
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Linkage Analysis of Retinitis Pigmentosa in Families of North Waziristan Agency
... Blood samples of 6 families were collected, based on having at least two effected individuals of RP in a family, but only 4 families were characterized for linkage analysis in PDE6B gene. The families were named as ...
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The unusual association of inverse retinitis pigmentosa and Fuchs’ heterochromic iridocyclitis
... Background: Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs’ heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been ...
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Efficacy of valproic acid for retinitis pigmentosa patients: a pilot study
... Retinitis pigmentosa (RP) is the term used for a group of retinal diseases that are characterized by inherited, progressive degeneration of retinal tissue, mainly rod and secondarily cone ...
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Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa
... 5. Russell S, Bennett J, Wellman JA, Chung DC, Yu Z-F, Tillman A, et al. Effi- cacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, ...
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Adaptive optics fundus images of cone photoreceptors in the macula of patients with retinitis pigmentosa
... Case 2 was a 56-year-old woman with best-corrected visual acuity of 1.2 in both eyes. A color fundus photograph of the right eye showed fundus characteristics typical of retinitis pigmentosa, as also seen ...
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Retinitis Pigmentosa: Pathophysiology and its Management
... Retinitis pigmentosa (RP) is a degenerative disease of retina followed by pigment deposition in periphery of retina as shown in Figure 2. In RP there is a major degeneration of the photoreceptor rods, with ...
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Unilateral retinitis pigmentosa and cone-rod dystrophy
... The 14 cases of unilateral retinitis pigmentosa included eight females and six males. The three cases of unilateral cone- rod dystrophy included two females and one male. In none of these cases was there a ...
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Rhodopsin retinitis pigmentosa: An in vitro study of the cellular fate of wild type and mutant rhodopsin
... A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is. defective in localization to the photoreceptor outer segmen[r] ...
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