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Quoted phrase not found in phrase index: "Retinitis pigmentosa 38"
Page 1
Stemming retinal regeneration with pluripotent stem cells.
Jin ZB, Gao ML, Deng WL, Wu KC, Sugita S, Mandai M, Takahashi M. Jin ZB, et al. Prog Retin Eye Res. 2019 Mar;69:38-56. doi: 10.1016/j.preteyeres.2018.11.003. Epub 2018 Nov 9. Prog Retin Eye Res. 2019. PMID: 30419340 Free article. Review.
Cell replacement therapy is a promising treatment for irreversible retinal cell death in diverse diseases, such as age-related macular degeneration (AMD), Stargardt's disease, retinitis pigmentosa (RP) and glaucoma. These diseases are all characterized by the degene …
Cell replacement therapy is a promising treatment for irreversible retinal cell death in diverse diseases, such as age-related macular degen …
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S. Kuehlewein L, et al. Int J Mol Sci. 2021 Feb 27;22(5):2374. doi: 10.3390/ijms22052374. Int J Mol Sci. 2021. PMID: 33673512 Free PMC article.
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. ...We expect these findings to have implications on the design of future …
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retiniti …
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Ophthalmology. 2023 Apr;130(4):413-422. doi: 10.1016/j.ophtha.2022.11.015. Epub 2022 Nov 22. Ophthalmology. 2023. PMID: 36423731 Free PMC article.
RESULTS: Fifty-four molecularly confirmed patients were identified from 38 pedigrees. Twenty-eight disease-causing variants were identified, with 20 not previously clinically characterized. Fifty-three patients (98.1%) presented with retinitis pigmentosa. The …
RESULTS: Fifty-four molecularly confirmed patients were identified from 38 pedigrees. Twenty-eight disease-causing variants were iden …
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M. Georgiou M, et al. Am J Ophthalmol. 2021 Jan;221:299-310. doi: 10.1016/j.ajo.2020.08.004. Epub 2020 Aug 12. Am J Ophthalmol. 2021. PMID: 32795431 Free PMC article.
PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. ...Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. P …
PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient coun …
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. ...Postoperative posterior capsular opacifications were present in 111 of 295 eyes (38%). CONCLUSION: S …
PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, n …
Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF. Viering DHHM, et al. J Am Soc Nephrol. 2023 Nov 1;34(11):1875-1888. doi: 10.1681/ASN.0000000000000224. Epub 2023 Sep 6. J Am Soc Nephrol. 2023. PMID: 37678265
We evaluated 214 case series and reports (362 patients) as well as nine observational studies. Joanna Briggs Institute criteria were used to evaluate the quality of included studies. RESULTS: Of 362 reported patients, 289 had an electrolyte disorder, with it being the pres …
We evaluated 214 case series and reports (362 patients) as well as nine observational studies. Joanna Briggs Institute criteria were …
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF. Nguyen XT, et al. Int J Mol Sci. 2020 Jan 28;21(3):835. doi: 10.3390/ijms21030835. Int J Mol Sci. 2020. PMID: 32012938 Free PMC article.
Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. The mean best-corrected visua …
Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigme …
Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
Humphries P, Farrar GJ, Kenna P, McWilliam P. Humphries P, et al. Clin Genet. 1990 Jul;38(1):1-13. doi: 10.1111/j.1399-0004.1990.tb03541.x. Clin Genet. 1990. PMID: 2201466 Review.
Retinitis pigmentosa (RP) is an hereditary degenerative disease of the retina and a major cause of visual impairment, prevalence estimates ranging from 1 in 3000 to 1 in 7000. ...Extensive genetic heterogeneity thus exists in the autosomal dominant form of this dise …
Retinitis pigmentosa (RP) is an hereditary degenerative disease of the retina and a major cause of visual impairment, prevalen …
Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III.
Parameswarappa DC, Das AV, Doctor MB, Natarajan R, Agarwal K, Jalali S. Parameswarappa DC, et al. Indian J Ophthalmol. 2022 Jul;70(7):2540-2545. doi: 10.4103/ijo.IJO_2272_21. Indian J Ophthalmol. 2022. PMID: 35791152 Free PMC article.
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Usher syndrome (USH). METHODS: This is a cross-sectional observational hospital-based study including patients presenting between March 2 …
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Ushe …
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391
RESULTS: Twenty-five different mutations of RDH12 were identified in the 38 families. Six of these variants were novel. Val146Asp was observed at the highest frequency (23.7%), and it was followed by Arg62Ter (14.5%) and Thr49Met (9.2%). Twenty-three probands were d …
RESULTS: Twenty-five different mutations of RDH12 were identified in the 38 families. Six of these variants were novel. Val146Asp was …
91 results