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Year Number of Results
1970 1
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1999 4
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Quoted phrase not found in phrase index: "Retinitis pigmentosa 14"
Page 1
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. ...Currently, there is no therapy that stops the evolution of the disease or restores the vi …
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal …
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
RESULTS: Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentosa, 7/15 (46.7%) with cone and cone-rod dystrophy, 2/3 (66.6%) with Usher syndrome, 1/2 (50.0%) with congenital stationary night blindness, 2/2 …
RESULTS: Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentosa, …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Despite all the available therapies, the condition carries a very poor prognosis. Existing therapies provide symptomatic and clinical benefit, but do not fully address molecular abnormalities that occur in cardiomyocytes. ...
Despite all the available therapies, the condition carries a very poor prognosis. Existing therapies provide symptomatic and clinical …
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B. Fischer MD, et al. JAMA Ophthalmol. 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. JAMA Ophthalmol. 2020. PMID: 32352493 Free PMC article. Clinical Trial.
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y. Jiang F, et al. Invest Ophthalmol Vis Sci. 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. Invest Ophthalmol Vis Sci. 2016. PMID: 26780318
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), and retinitis pigmentosa. The objective of this study was to determine the ABCA4 mu …
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease …
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK. Heath Jeffery RC, et al. Ophthalmic Genet. 2023 Aug;44(4):352-360. doi: 10.1080/13816810.2023.2196338. Epub 2023 Apr 4. Ophthalmic Genet. 2023. PMID: 37013444
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. ...BEVF testing is essential in the assessment of RP patients who are still driving. Phenotype and genotype predicto …
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FT …
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
Kannabiran C. Kannabiran C. Ophthalmic Genet. 2020 Dec;41(6):513-517. doi: 10.1080/13816810.2020.1807025. Epub 2020 Aug 17. Ophthalmic Genet. 2020. PMID: 32799588 Review.
Mutations in SPATA7 are associated with Leber congenital amaurosis (LCA) and early-onset retinitis pigmentosa. There are no clear-cut correlations between the genotypes and phenotypes in SPATA7-associated disease, and phenotypic heterogeneity occurs among patients w …
Mutations in SPATA7 are associated with Leber congenital amaurosis (LCA) and early-onset retinitis pigmentosa. There are no cl …
RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG. Lee EK, et al. Retina. 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. Retina. 2022. PMID: 34907125
PURPOSE: To investigate the clinical findings, natural course, and pigment development of patients with retinitis pigmentosa (RP) sine pigmento using multimodal imaging. ...
PURPOSE: To investigate the clinical findings, natural course, and pigment development of patients with retinitis pigmentos …
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF. Nguyen XT, et al. Am J Ophthalmol. 2023 Feb;246:1-9. doi: 10.1016/j.ajo.2022.10.001. Epub 2022 Oct 15. Am J Ophthalmol. 2023. PMID: 36252678 Free article.
PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, noncomparative clinical study. ...CONCLUSION: Significant improvements in BCVA are observed in most patients with RP following cataract surge …
PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, n …
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA. Schwartz SG, et al. Cochrane Database Syst Rev. 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. Cochrane Database Syst Rev. 2020. PMID: 32573764 Free PMC article.
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. ...Visual field loss is progressive and affects central vision later in the disease course. The worldwide p …
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration o …
168 results