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Quoted phrase not found in phrase index: "Retinitis pigmentosa 31"
Page 1
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 complexiti …
For this review, we performed an in-depth literature search which allowed for compilation of the Global Retinal Inherited Disease (GRID) dat …
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. ...BEVF testing is essential in the assessment of RP patients who are still driving. Phenotype and genotype predicto …
BACKGROUND: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FT …
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA. Hafler BP, et al. Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Semin Ophthalmol. 2016. PMID: 26959129 Free PMC article. Review.
Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a major cause of vision loss. The development of gene augmentation therapy for disease caused by mutations in PRPF31 necessitates defining pretrea …
Mutations in pre-mRNA splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa, and a majo …
CRISPR Cas9 based genome editing in inherited retinal dystrophies.
Bansal M, Acharya S, Sharma S, Phutela R, Rauthan R, Maiti S, Chakraborty D. Bansal M, et al. Ophthalmic Genet. 2021 Aug;42(4):365-374. doi: 10.1080/13816810.2021.1904421. Epub 2021 Apr 6. Ophthalmic Genet. 2021. PMID: 33821751 Review.
BACKGROUND: Precision genome engineering, with targeted therapy towards patient-specific mutations is predicted to be the future of personalized medicine. Ophthalmology is in the frontiers of development of targeted therapy since the eye is an accessible organ and has the …
BACKGROUND: Precision genome engineering, with targeted therapy towards patient-specific mutations is predicted to be the future of p …
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G, Douglas A, Baralle D, Guillot E. Wheway G, et al. Exp Eye Res. 2020 Mar;192:107950. doi: 10.1016/j.exer.2020.107950. Epub 2020 Jan 31. Exp Eye Res. 2020. PMID: 32014492 Free PMC article. Review.
Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in most populations. This remains a completely untreatable and incurable form of blindne …
Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal …
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
Mean Intraocular pressure at diagnosis of glaucoma was 27 16 mmHg (95% CI 23.5, 31.5 mmHg). The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. ...Glaucoma was managed medically in majority o …
Mean Intraocular pressure at diagnosis of glaucoma was 27 16 mmHg (95% CI 23.5, 31.5 mmHg). The most common retinal dystrophy associa …
Unusual Association of Inverse Retinitis Pigmentosa, Scleromalacia, and Neovascular Glaucoma.
Koçak Altıntaş AG, İlhan Ç, Çıtırık M. Koçak Altıntaş AG, et al. Turk J Ophthalmol. 2020 Apr 29;50(2):110-114. doi: 10.4274/tjo.galenos.2020.07573. Turk J Ophthalmol. 2020. PMID: 32367703 Free PMC article.
A 31-year-old woman with inverse retinitis pigmentosa presented with severe ocular pain and ingrained visual loss. ...The most important aspect of this case report is that it is the first to show an unusual association between neovascular glaucoma, scleromala …
A 31-year-old woman with inverse retinitis pigmentosa presented with severe ocular pain and ingrained visual loss. ...T …
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA. Schwartz SG, et al. Cochrane Database Syst Rev. 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. Cochrane Database Syst Rev. 2020. PMID: 32573764 Free PMC article.
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. ...AUTHORS' CONCLUSIONS: Based on the results of four studies, it is uncertain if there is a benefit of treatment …
BACKGROUND: Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration o …
Development and validation of a visual field cluster in retinitis pigmentosa.
Omoto T, Oishi A, Asaoka R, Fujino Y, Murata H, Azuma K, Miyata M, Obata R, Inoue T. Omoto T, et al. Sci Rep. 2021 May 6;11(1):9671. doi: 10.1038/s41598-021-89233-0. Sci Rep. 2021. PMID: 33958698 Free PMC article.
The aim was to establish and evaluate a new clustering method for visual field (VF) test points to predict future VF in retinitis pigmentosa. A Humphrey Field Analyzer 10-2 test was clustered using total deviation values from 858 VFs. ...More accurate pred …
The aim was to establish and evaluate a new clustering method for visual field (VF) test points to predict future VF in retinitis …
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. ...No association between degree of myopia and RD was noted (P = 0.63 …
OBJECTIVE: To describe clinical features and treatment outcomes of retinal detachment (RD) in eyes with retinitis pigmentosa ( …
127 results