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Quoted phrase not found in phrase index: "Retinitis pigmentosa 31"
Page 1
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 …
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA. Hafler BP, et al. Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Semin Ophthalmol. 2016. PMID: 26959129 Free PMC article. Review.
Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a major cause of vision loss. The development of gene augmentation therapy for disease caused by mutations in PRPF31 necessitates defining pretrea …
Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a majo …
Vitreo-macular interface disorders in retinitis pigmentosa.
Fragiotta S, Rossi T, Carnevale C, Cutini A, Tricarico S, Casillo L, Scuderi G, Vingolo EM. Fragiotta S, et al. Graefes Arch Clin Exp Ophthalmol. 2019 Oct;257(10):2137-2146. doi: 10.1007/s00417-019-04418-8. Epub 2019 Jul 19. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 31324966
PURPOSE: To investigate the prevalence and progression of vitreo-macular interface disorders (VMID) phenotypes and their natural history in retinitis pigmentosa (RP). METHODS: A total of 257 eyes of 145 RP patients with VMID were retrospectively evaluated. ...
PURPOSE: To investigate the prevalence and progression of vitreo-macular interface disorders (VMID) phenotypes and their natural history in …
Brown-Vialetto-Van Laere syndrome.
Sathasivam S. Sathasivam S. Orphanet J Rare Dis. 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. Orphanet J Rare Dis. 2008. PMID: 18416855 Free PMC article. Review.
Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epi …
Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakne …
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM. Feenstra HM, et al. Genes (Basel). 2022 Aug 10;13(8):1423. doi: 10.3390/genes13081423. Genes (Basel). 2022. PMID: 36011334 Free PMC article.
Background: This study aimed to compare phenotypegenotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. ...An accurate molecular diagnosis is importa …
Background: This study aimed to compare phenotypegenotype correlation in patients with Usher syndrome (USH) to those with autosomal recessiv …
CRISPR Cas9 based genome editing in inherited retinal dystrophies.
Bansal M, Acharya S, Sharma S, Phutela R, Rauthan R, Maiti S, Chakraborty D. Bansal M, et al. Ophthalmic Genet. 2021 Aug;42(4):365-374. doi: 10.1080/13816810.2021.1904421. Epub 2021 Apr 6. Ophthalmic Genet. 2021. PMID: 33821751 Review.
BACKGROUND: Precision genome engineering, with targeted therapy towards patient-specific mutations is predicted to be the future of personalized medicine. Ophthalmology is in the frontiers of development of targeted therapy since the eye is an accessible organ and has the …
BACKGROUND: Precision genome engineering, with targeted therapy towards patient-specific mutations is predicted to be the future of p …
Retinal Detachment in 31 Eyes with Retinitis Pigmentosa.
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T. Rishi E, et al. Ophthalmol Retina. 2018 Jan;2(1):10-16. doi: 10.1016/j.oret.2017.03.012. Epub 2017 May 24. Ophthalmol Retina. 2018. PMID: 31047295
OBJECTIVE: To describe clinical features and treatment outcomes of retinal detachment (RD) in eyes with retinitis pigmentosa (RP). DESIGN: Single-center, retrospective, interventional case series. ...Precocious vitreous degeneration and sparse pigmentation in younge …
OBJECTIVE: To describe clinical features and treatment outcomes of retinal detachment (RD) in eyes with retinitis pigmentosa ( …
Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa.
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S. Ito N, et al. Biomed Res Int. 2022 Jul 14;2022:7204954. doi: 10.1155/2022/7204954. eCollection 2022. Biomed Res Int. 2022. PMID: 35872870 Free PMC article. Review.
We reviewed medical records of 121 patients/235 eyes of typical retinitis pigmentosa (RP) patients who could be followed up for at least 5 years with the aim of investigating the long-term course of visual function progression at each RP stage and appropriate …
We reviewed medical records of 121 patients/235 eyes of typical retinitis pigmentosa (RP) patients who could be followed up fo …
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 …
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M. Daich Varela M, et al. Ophthalmology. 2023 Dec;130(12):1327-1335. doi: 10.1016/j.ophtha.2023.07.027. Epub 2023 Aug 5. Ophthalmology. 2023. PMID: 37544434 Free PMC article.
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related d …
RESULTS: The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-ons …
94 results