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Quoted phrase not found in phrase index: "Retinitis pigmentosa 90"
Page 1
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, …
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M. Bhardwaj A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. Indian J Ophthalmol. 2022. PMID: 35791117 Free PMC article. Review.
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...It is so complicated that it is known as "fever of unknown origin". For prognosis and proper management of the disease, it is necessary to understand its genetic heterogeneity so tha …
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...It is so complicated that it is known as "fever o …
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Kuehlewein L, et al. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.
IMPORTANCE: Treatment trials require sound knowledge on the natural course of disease. OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence …
IMPORTANCE: Treatment trials require sound knowledge on the natural course of disease. OBJECTIVE: To assess clinical features, geneti …
Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH. Tsutsui S, et al. Jpn J Ophthalmol. 2024 Jan;68(1):1-11. doi: 10.1007/s10384-023-01036-0. Epub 2023 Dec 9. Jpn J Ophthalmol. 2024. PMID: 38070066
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of Japan. STUDY DESIGN: Retrospective, single-center study. ...[Pro347Leu] variant showed a more severe phenotype, and variants causing sector …
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of …
POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA.
Xu X, Fang Y, Yokoi T, Shinohara K, Hirakata A, Iwata T, Tsunoda K, Jonas JB, Ohno-Matsui K. Xu X, et al. Retina. 2019 Jul;39(7):1299-1304. doi: 10.1097/IAE.0000000000002180. Retina. 2019. PMID: 29708934
PURPOSE: To describe features of posterior staphylomas in nonhighly myopic eyes with retinitis pigmentosa (RP). METHODS: The retrospective observational case series study included patients with RP and an axial length of <26.5 mm and searched for eyes with posteri …
PURPOSE: To describe features of posterior staphylomas in nonhighly myopic eyes with retinitis pigmentosa (RP). METHODS: The r …
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 ( …
No Light Perception Vision in Neuro-Ophthalmology Practice.
Garg A, Margolin E, Micieli JA. Garg A, et al. J Neuroophthalmol. 2022 Mar 1;42(1):e225-e229. doi: 10.1097/WNO.0000000000001340. Epub 2021 Jul 27. J Neuroophthalmol. 2022. PMID: 34334760
Patients were included if they had NLP vision any time during their clinical course. Outcome measures were final diagnosis, treatment, and visual outcome. ...Other diagnoses included optic neuritis (ON) (11 patients), infiltrative optic neuropathies (8), posterior ischemic …
Patients were included if they had NLP vision any time during their clinical course. Outcome measures were final diagnosis, treatment …
Retinitis pigmentosa. A symposium on terminology and methods of examination.
[No authors listed] [No authors listed] Ophthalmology. 1983 Feb;90(2):126-31. Ophthalmology. 1983. PMID: 6856249
This report represents a summary of opinions expressed at a meeting of specialists interested in retinitis pigmentosa (RP) and allied diseases, at which an attempt was made to define some minimum guidelines for ocular evaluation of these disorders. ...Sunglasses for …
This report represents a summary of opinions expressed at a meeting of specialists interested in retinitis pigmentosa (RP) and …
Mental health of people with retinitis pigmentosa.
Kim S, Shin DW, An AR, Lee CH, Park JH, Park JH, Oh MK, Hwang SH, Kim Y, Cho B, Lee HK. Kim S, et al. Optom Vis Sci. 2013 May;90(5):488-93. doi: 10.1097/OPX.0b013e31828dee0a. Optom Vis Sci. 2013. PMID: 23563443
PURPOSE: The purpose of this study was to evaluate and compare the mental health of patients with retinitis pigmentosa (RP) with that of the general population of Korea. METHODS: Online surveys were completed by patients registered with the KRPS (Korean Retinitis …
PURPOSE: The purpose of this study was to evaluate and compare the mental health of patients with retinitis pigmentosa (RP) wi …
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD. Bellingrath JS, et al. Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077. Invest Ophthalmol Vis Sci. 2017. PMID: 28863407
PURPOSE: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. ...VA and foveal thickness, followed by perimetry III4e, were the …
PURPOSE: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa …
50 results