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Quoted phrase not found in phrase index: "Retinitis pigmentosa 32"
Page 1
IMPG2-Related Maculopathy.
Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P. Birtel J, et al. Am J Ophthalmol. 2024 Feb;258:32-42. doi: 10.1016/j.ajo.2023.10.002. Epub 2023 Oct 6. Am J Ophthalmol. 2024. PMID: 37806544
RESULTS: A total of 25 individuals with a mono-allelic IMPG2 variant were included, 5 of whom were relatives of patients with IMPG2-associated retinitis pigmentosa. A distinct maculopathy was present in 17 individuals (median age, 52 years; range, 20-72 years), and …
RESULTS: A total of 25 individuals with a mono-allelic IMPG2 variant were included, 5 of whom were relatives of patients with IMPG2-associat …
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 …
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 …
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S. Parameswarappa DC, et al. Int Ophthalmol. 2022 Oct;42(10):3137-3144. doi: 10.1007/s10792-022-02313-6. Epub 2022 May 18. Int Ophthalmol. 2022. PMID: 35585370
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The hospital-based prevalence of PACD among all patients with RP and retinoschisis was 0.19% and 0.15% respectively. ...Glaucoma was managed medic …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
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.
OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial. ...Patients with …
OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentos …
The doublecortin gene family and disorders of neuronal structure.
Dijkmans TF, van Hooijdonk LW, Fitzsimons CP, Vreugdenhil E. Dijkmans TF, et al. Cent Nerv Syst Agents Med Chem. 2010 Mar;10(1):32-46. doi: 10.2174/187152410790780118. Cent Nerv Syst Agents Med Chem. 2010. PMID: 20236041 Review.
The doublecortin gene family is associated with subcortical band heterotopia, lissencephaly, epilepsy, developmental dyslexia and retinitis pigmentosa. At least 11 genes homologous to the doublecortin gene exist in humans and mice. ...In addition, to generate new hy …
The doublecortin gene family is associated with subcortical band heterotopia, lissencephaly, epilepsy, developmental dyslexia and retinit …
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N, Krašovec T, Šuštar M, Volk M, Peterlin B, Hawlina M, Fakin A. Kobal N, et al. Int J Mol Sci. 2021 Feb 21;22(4):2133. doi: 10.3390/ijms22042133. Int J Mol Sci. 2021. PMID: 33669941 Free PMC article.
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). ...The phenotypes were not associated with family, sex or age (Kruskal-Wallis, p > 0.05), however, cystoid macular ed …
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary nigh …
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: Signific …
PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, n …
Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry.
Buckley TMW, Josan AS, Taylor LJ, Jolly JK, Cehajic-Kapetanovic J, MacLaren RE. Buckley TMW, et al. Transl Vis Sci Technol. 2022 May 2;11(5):15. doi: 10.1167/tvst.11.5.15. Transl Vis Sci Technol. 2022. PMID: 35576214 Free PMC article.
PURPOSE: Peripheral visual fields have not been as well defined by static automated perimetry as kinetic perimetry in RPGR-related retinitis pigmentosa. This study explores the pattern and sensitivities of peripheral visual fields, which may provide an important end …
PURPOSE: Peripheral visual fields have not been as well defined by static automated perimetry as kinetic perimetry in RPGR-related retini …
Management of retinitis pigmentosa by Wharton's jelly derived mesenchymal stem cells: preliminary clinical results.
Özmert E, Arslan U. Özmert E, et al. Stem Cell Res Ther. 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. Stem Cell Res Ther. 2020. PMID: 31931872 Free PMC article.
PURPOSE: The aim of this study is to determine if umbilical cord Wharton's jelly derived mesenchymal stem cells implanted in sub-tenon space have beneficial effects on visual functions in retinitis pigmentosa patients by reactivating the degenerated photoreceptors i …
PURPOSE: The aim of this study is to determine if umbilical cord Wharton's jelly derived mesenchymal stem cells implanted in sub-tenon space …
97 results