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Quoted phrase not found in phrase index: "Retinitis pigmentosa 36"
Page 1
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC. Lo JE, et al. Transl Vis Sci Technol. 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. Transl Vis Sci Technol. 2022. PMID: 35816039 Free PMC article.
PURPOSE: The purpose of this study was to investigate the genetic and clinical characteristics of eyes shut homolog (EYS)-associated retinitis pigmentosa (RP). METHODS: This was a retrospective cross-sectional observational study of 36 patients with EY …
PURPOSE: The purpose of this study was to investigate the genetic and clinical characteristics of eyes shut homolog (EYS)-associated reti …
Correlation between neutrophil-to-lymphocyte ratio and clinical manifestations and complications of retinitis pigmentosa.
He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J. He M, et al. Acta Ophthalmol. 2022 Feb;100(1):e278-e287. doi: 10.1111/aos.14880. Epub 2021 Jun 2. Acta Ophthalmol. 2022. PMID: 34080305 Free article.
PURPOSE: The role of inflammation in retinitis pigmentosa (RP) has been receiving additional attention. ...Analysis of receiver operating characteristic curves suggested that NLR > 1.36 could predict higher degrees (PSC area >3%, >P1) of PSC ( …
PURPOSE: The role of inflammation in retinitis pigmentosa (RP) has been receiving additional attention. ...Analysis of receive …
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
Cases were compared according to their prenatal findings and outcomes. RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of sho …
Cases were compared according to their prenatal findings and outcomes. RESULTS: 36 cases of multisystem ciliopathies were diagnosed. …
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 …
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS. Bianco L, et al. Invest Ophthalmol Vis Sci. 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. Invest Ophthalmol Vis Sci. 2023. PMID: 38088826 Free PMC article.
PURPOSE: To determine if circulating antiretinal antibodies (ARAs) differ between patients affected by retinitis pigmentosa (RP) and control participants and to assess whether ARAs are associated with clinical outcomes in patients with RP. ...Sera from patients with …
PURPOSE: To determine if circulating antiretinal antibodies (ARAs) differ between patients affected by retinitis pigmentosa (R …
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. ...The A-V SO2, which corresponds to the …
INTRODUCTION: Transcorneal electrical stimulation (TES) is a new therapeutical approach for retinitis pigmentosa (RP). With pr …
Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
Yang Y, Tian D, Lee J, Zeng J, Zhang H, Chen S, Guo H, Xiong Z, Xia K, Hu Z, Luo J. Yang Y, et al. Ophthalmic Genet. 2015 Mar;36(1):64-9. doi: 10.3109/13816810.2013.809458. Epub 2013 Jul 8. Ophthalmic Genet. 2015. PMID: 23834559
BACKGROUND: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. ...Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of …
BACKGROUND: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressiv …
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.
CONCLUSIONS: Early-onset age, disciform macular atrophy with generalized tapetoretinal dystrophy, and poor visual acuity are the typical features of NMNAT1-associated retinal degeneration. Different variant hot spots of NMNAT1 were observed in different populations....
CONCLUSIONS: Early-onset age, disciform macular atrophy with generalized tapetoretinal dystrophy, and poor visual acuity are the typical fea …
Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.
Gill JS, Theofylaktopoulos V, Mitsios A, Houston S, Hagag AM, Dubis AM, Moosajee M. Gill JS, et al. Int J Mol Sci. 2022 Apr 11;23(8):4198. doi: 10.3390/ijms23084198. Int J Mol Sci. 2022. PMID: 35457016 Free PMC article.
Pathogenic mutations in USH2A are a leading cause of visual loss secondary to non-syndromic or Usher syndrome-associated retinitis pigmentosa (RP). With an increasing number of RP-targeted clinical trials in progress, we sought to evaluate the photoreceptor topograp …
Pathogenic mutations in USH2A are a leading cause of visual loss secondary to non-syndromic or Usher syndrome-associated retinitis …
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
Wang J, Xiao X, Li S, Jiang H, Sun W, Wang P, Zhang Q. Wang J, et al. Acta Ophthalmol. 2022 Nov;100(7):e1412-e1425. doi: 10.1111/aos.15104. Epub 2022 Feb 9. Acta Ophthalmol. 2022. PMID: 35138024 Free article.
PURPOSE: Variants in six genes encoding pre-mRNA processing factors (PRPFs) are a common cause of autosomal dominant retinitis pigmentosa (ADRP). This study aims to determine the characteristics of potential pathogenic variants (PPVs) in the six genes. ...The featur …
PURPOSE: Variants in six genes encoding pre-mRNA processing factors (PRPFs) are a common cause of autosomal dominant retinitis pig …
131 results