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Quoted phrase not found in phrase index: "Retinitis pigmentosa 65"
Page 1
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH. Gao FJ, et al. Ophthalmology. 2019 Nov;126(11):1549-1556. doi: 10.1016/j.ophtha.2019.04.038. Epub 2019 May 1. Ophthalmology. 2019. PMID: 31054281
PURPOSE: To characterize the genetic landscape of patients with suspected retinitis pigmentosa (RP) in the Chinese population. DESIGN: Cohort study. ...Diagnostic yield was higher among patients in the early-onset subgroup (5 years old, 79.58%) than in the childhood …
PURPOSE: To characterize the genetic landscape of patients with suspected retinitis pigmentosa (RP) in the Chinese population. …
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Ke …
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO …
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D. Schneider N, et al. Prog Retin Eye Res. 2022 Jul;89:101029. doi: 10.1016/j.preteyeres.2021.101029. Epub 2021 Nov 25. Prog Retin Eye Res. 2022. PMID: 34839010 Review.
For this review, we performed an in-depth literature search which allowed for compilation of the Global Retinal Inherited Disease (GRID) dataset containing 4,798 discrete variants and 17,299 alleles published in 31 papers, showing a wide range of frequencies and complexities amon …
For this review, we performed an in-depth literature search which allowed for compilation of the Global Retinal Inherited Disease (GRID) dat …
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y. Jiang F, et al. Invest Ophthalmol Vis Sci. 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. Invest Ophthalmol Vis Sci. 2016. PMID: 26780318
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), and retinitis pigmentosa. The objective of this study was to determine the ABCA4 mu …
PURPOSE: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease …
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. ...Phenotype and genotype predictors for passing the standards warrant further investigation.Abbreviation: FTD, fitness …
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FT …
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. McGee TL, et al. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507924 Free PMC article.
BACKGROUND: Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. ...This system classified 8 of the 65 changes as 'likely deleterious' and 9 as 'possibly d …
BACKGROUND: Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mi …
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A. Chatterjee S, et al. Indian J Ophthalmol. 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. Indian J Ophthalmol. 2021. PMID: 34146021 Free PMC article.
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METHODS: This retrospective case series includes a review of the medical records of all patients with retinitis pigmentosa undergo …
PURPOSE: The aim of this study was to evaluate visual outcomes of cataract surgery in patients with retinitis pigmentosa. METH …
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M. Rodriguez-Martinez AC, et al. Int J Mol Sci. 2023 Sep 11;24(18):13932. doi: 10.3390/ijms241813932. Int J Mol Sci. 2023. PMID: 37762234 Free PMC article.
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). ...A total of 15 (48%) patients had EOSRD/LCA, 11 (35 …
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retin …
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O. Zeki Fikret C, et al. Photodiagnosis Photodyn Ther. 2023 Jun;42:103554. doi: 10.1016/j.pdpdt.2023.103554. Epub 2023 Apr 6. Photodiagnosis Photodyn Ther. 2023. PMID: 37030435
BACKGROUND: To evaluate corneal topography and specular microscopic findings in patients with retinitis pigmentosa. METHODS: One hundred and two eyes of 51 patients with retinitis pigmentosa and 60 eyes of 30 healty subjects were included in our study. …
BACKGROUND: To evaluate corneal topography and specular microscopic findings in patients with retinitis pigmentosa. METHODS: O …
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. ...The st …
PURPOSE: To investigate the prevalence and progression of vitreo-macular interface disorders (VMID) phenotypes and their natural history in …
127 results