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1976 1
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Page 1
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. ...We discuss other opportunities for therapy, including ant …
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 …
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular …
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IR …
Management of Retinitis Pigmentosa Via Wharton's Jelly-Derived Mesenchymal Stem Cells or Combination With Magnovision: 3-Year Prospective Results.
Ozmert E, Arslan U. Ozmert E, et al. Stem Cells Transl Med. 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. Stem Cells Transl Med. 2023. PMID: 37713598 Free PMC article.
To investigate whether the natural progression rate of retinitis pigmentosa (RP) can be decreased with subtenon Wharton's jelly-derived mesenchymal stem cell (WJ-MSC) application alone or combination with Magnovision. The study included prospective analysis of 130 e …
To investigate whether the natural progression rate of retinitis pigmentosa (RP) can be decreased with subtenon Wharton's jell …
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 …
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review.
Brito-García N, Del Pino-Sedeño T, Trujillo-Martín MM, Coco RM, Rodríguez de la Rúa E, Del Cura-González I, Serrano-Aguilar P. Brito-García N, et al. Eye (Lond). 2017 Feb;31(2):273-285. doi: 10.1038/eye.2016.286. Epub 2016 Dec 9. Eye (Lond). 2017. PMID: 27935602 Free PMC article. Review.
Experimental, quasi-experimental and controlled observational studies were selected. Eight studies were ultimately included, seven on retinitis pigmentosa (RP) and one on Best disease. Vitamin A, vitamin E, docosahexaenoic acid (DHA), lutein and beta-carotene were a …
Experimental, quasi-experimental and controlled observational studies were selected. Eight studies were ultimately included, seven on ret …
Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.
Inaba A, Yoshida A, Maeda A, Kawai K, Kosugi S, Takahashi M. Inaba A, et al. J Genet Couns. 2022 Aug;31(4):860-867. doi: 10.1002/jgc4.1556. Epub 2022 Feb 1. J Genet Couns. 2022. PMID: 35106875
Awareness of the importance of genetic testing for IRD in the clinical setting is increasing with the recent development of new therapeutic strategies, such as gene therapy. Here, the perception of genetic testing, including its benefits and potential challenges, am …
Awareness of the importance of genetic testing for IRD in the clinical setting is increasing with the recent development of new therapeut …
Gene therapy beyond luxturna: a new horizon of the treatment for inherited retinal disease.
Prado DA, Acosta-Acero M, Maldonado RS. Prado DA, et al. Curr Opin Ophthalmol. 2020 May;31(3):147-154. doi: 10.1097/ICU.0000000000000660. Curr Opin Ophthalmol. 2020. PMID: 32175942 Review.
PURPOSE OF REVIEW: Gene therapy offers, for the first time, the possibility to cure diseases such as retinitis pigmentosa. ...RECENT FINDINGS: In 2017, the FDA approved the first gene therapy treatment. In parallel, other approaches have gained attenti …
PURPOSE OF REVIEW: Gene therapy offers, for the first time, the possibility to cure diseases such as retinitis pigmentosa …
Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options.
Partin S, Westfall E, Sanda G, Branham K, Muir K, Bellcross C, Jain N. Partin S, et al. Ophthalmic Genet. 2023 Feb;44(1):43-48. doi: 10.1080/13816810.2022.2135113. Epub 2022 Oct 14. Ophthalmic Genet. 2023. PMID: 36239593
PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease. ...
PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease …
Patterns of Autofluorescence in Common Genotypes of Retinitis Pigmentosa.
Dowd-Schoeman TJ, Rosenbloom J, Ameri H. Dowd-Schoeman TJ, et al. Ophthalmic Surg Lasers Imaging Retina. 2021 Aug;52(8):426-431. doi: 10.3928/23258160-20210727-03. Epub 2021 Aug 1. Ophthalmic Surg Lasers Imaging Retina. 2021. PMID: 34410191
BACKGROUND AND OBJECTIVE: To investigate whether different forms of retinitis pigmentosa (RP) could be distinguished from one another using fundus autofluorescence (FAF) imaging. PATIENTS AND METHODS: The National Institutes of Health EyeGene database was used to ga …
BACKGROUND AND OBJECTIVE: To investigate whether different forms of retinitis pigmentosa (RP) could be distinguished from one …
22 results