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Quoted phrase not found in phrase index: "Retinitis pigmentosa 54"
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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 blindnes …
RESULTS: Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentos …
Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time.
Antropoli A, Arrigo A, Bianco L, Cavallari E, Bandello F, Battaglia Parodi M. Antropoli A, et al. Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):8. doi: 10.1167/iovs.64.12.8. Invest Ophthalmol Vis Sci. 2023. PMID: 37669062 Free PMC article.
PURPOSE: The purpose of this study was to investigate the relation among hyperautofluorescent ring patterns, visual acuity (VA), and optical coherence tomography (OCT) features in patients with retinitis pigmentosa (RP), and to describe its modifications over time. …
PURPOSE: The purpose of this study was to investigate the relation among hyperautofluorescent ring patterns, visual acuity (VA), and optical …
Retinitis pigmentosa--an overview.
Allard RE. Allard RE. J Am Optom Assoc. 1983 Sep;54(9):793-800. J Am Optom Assoc. 1983. PMID: 6604745
Retinitis pigmentosa is a retinal pigment dystrophy of multiple genetic inheritance patterns affecting approximately .5% of the world population. ...Basic research indicates that while there is no specific cure, certain precautions may prevent rapid acceleration of …
Retinitis pigmentosa is a retinal pigment dystrophy of multiple genetic inheritance patterns affecting approximately .5% of th …
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F. Karali M, et al. Int J Mol Sci. 2019 Dec 20;21(1):86. doi: 10.3390/ijms21010086. Int J Mol Sci. 2019. PMID: 31877679 Free PMC article.
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. ...Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirm …
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. …
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. ...Macular complications such as epiretinal membrane and cystoid macular edema wer …
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of …
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ. Kim DG, et al. Genes (Basel). 2023 May 8;14(5):1057. doi: 10.3390/genes14051057. Genes (Basel). 2023. PMID: 37239417 Free PMC article.
Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with retinitis pigmentosa (RP) were included. One patient (9.1%) had autosomal recessive inheritance, and the other ten patients (90.9%) …
Six patients with cone-rod dystrophy (CORD), two with macular dystrophy (MD), two with Leber congenital amaurosis (LCA), and one with ret …
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 …
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z, Li S, Wang S, Xiao X, Sun W, Zhang Q. Yi Z, et al. Eye (Lond). 2022 Dec;36(12):2279-2285. doi: 10.1038/s41433-021-01853-y. Epub 2021 Nov 26. Eye (Lond). 2022. PMID: 34837036 Free PMC article.
All of the 39 patients with fundus photos available presented disciform macular atrophy with generalized tapetoretinal dystrophy. Most (54/80, 67.5%) of causative NMNAT1 variants were missense. The most frequent variants in Caucasian and Asian population are p.E257K and p. …
All of the 39 patients with fundus photos available presented disciform macular atrophy with generalized tapetoretinal dystrophy. Most (5 …
Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa.
Marques JP, Neves E, Geada S, Carvalho AL, Murta J, Saraiva J, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Sep;260(9):2859-2866. doi: 10.1007/s00417-022-05649-y. Epub 2022 Apr 7. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 35389060

PURPOSE: Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degeneration is observed. ...Mixed-effects univariate linear regression identified age (p = 0.04), cataract surgery (p < 0.01), and loss of

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PURPOSE: Retinitis pigmentosa (RP) corresponds to a group of inherited retinal disorders where progressive rod-cone degenerati …
Metabolic Long-Term Monitoring of Transcorneal Electrical Stimulation in Retinitis Pigmentosa.
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M. Meral N, et al. Ophthalmic Res. 2022;65(1):52-59. doi: 10.1159/000519998. Epub 2021 Oct 4. Ophthalmic Res. 2022. PMID: 34607326 Free article.
INTRODUCTION: Transcorneal electrical stimulation (TES) is a new therapeutical approach for retinitis pigmentosa (RP). With progression of RP, degeneration of photoreceptors results in lower oxygen consumption of the retina. ...TES also did not appear to alter the v …
INTRODUCTION: Transcorneal electrical stimulation (TES) is a new therapeutical approach for retinitis pigmentosa (RP). With pr …
73 results