{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T05:23:21Z","timestamp":1740374601762,"version":"3.37.3"},"reference-count":12,"publisher":"Digital Journal of Opthalmology","license":[{"start":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:00:00Z","timestamp":1740182400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Digit J Ophthalmol"],"abstract":"<jats:p>We present the case of a 40-year-old woman with a history of high myopia and nyctalopia. Her best-corrected visual acuity was 20\/80 in the right eye and 20\/100 in the left eye. Fundus examination revealed generalized vascular attenuation, optic nerve pallor, and bone spicule pigmentation. Fundus autofluorescence in both eyes showed a Robson-Holder ring in the macula and multiple hypoautofluorescent lesions in the peripheral retina. Macular optical coherence tomography scans revealed a generalized thinning of retinal layers, with atrophy of the outer retinal layers. 10-2 visual fields revealed a small island of central vision in both eyes, and full field electroretinogram showed absence of scotopic and photopic responses. Genetic studies documented a rare variant in the RPGR gene (c.1991C&gt;G p.(Ser664*)). Findings compatible with retinitis pigmentosa in our patient suggests that this mutation is pathogenic. Further study is required to confirm this hypothesis.<\/jats:p>","DOI":"10.5693\/djo.02.2024.06.004","type":"journal-article","created":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T22:19:40Z","timestamp":1740349180000},"source":"Crossref","is-referenced-by-count":0,"title":["CASE REPORTS: A previously unreported RPGR gene variant in a female patient with X-linked retinitis pigmentosa"],"prefix":"10.5693","author":[{"given":"Mauricio","family":"Arango-Hurtado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis M.","family":"Jaramillo-Mayo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2839-4801","authenticated-orcid":false,"given":"Karol","family":"Quintero-Lizcano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3822","published-online":{"date-parts":[[2025,2,22]]},"reference":[{"key":"12952","doi-asserted-by":"crossref","unstructured":"Kort\u00fcm F, Kieninger S, Mazzola P, et al. X-linked retinitis pigmentosa caused by non-canonical splice site variants in RPGR. Int J Mol Sci 2021;22:850.","DOI":"10.3390\/ijms22020850"},{"key":"12953","doi-asserted-by":"crossref","unstructured":"Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 2018;66:157-86.","DOI":"10.1016\/j.preteyeres.2018.03.005"},{"key":"12954","doi-asserted-by":"crossref","unstructured":"Salvetti AP, Nanda A, MacLaren RE. RPGR-related X-linked retinitis pigmentosa carriers with a severe \u201cmale pattern.\u201d Ophthalmologica 2021;244:60-7.","DOI":"10.1159\/000503687"},{"key":"12955","doi-asserted-by":"crossref","unstructured":"Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, et al. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Nat Med 2020;26:354-9.","DOI":"10.1038\/s41591-020-0763-1"},{"key":"12956","doi-asserted-by":"crossref","unstructured":"Gocuk SA, Jolly JK, Edwards TL, Ayton LN. Female carriers of X-linked inherited retinal diseases \u2013 genetics, diagnosis, and potential therapies. Prog Retin Eye Res 2023;96:101190.","DOI":"10.1016\/j.preteyeres.2023.101190"},{"key":"12957","doi-asserted-by":"crossref","unstructured":"Pinheiro I, Heard E. X chromosome inactivation: new players in the initiation of gene silencing. F1000Res 2017;6:F1000 Faculty Rev-344.","DOI":"10.12688\/f1000research.10707.1"},{"key":"12958","doi-asserted-by":"crossref","unstructured":"Sun Z, Fan J, Wang Y. X-Chromosome inactivation and related diseases. Genet Res (Camb) 2022;2022:1391807.","DOI":"10.1155\/2022\/1391807"},{"key":"12959","doi-asserted-by":"crossref","unstructured":"Lyraki R, Megaw R, Hurd T. Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. Biochem Soc Trans 2016;44:1235-44.","DOI":"10.1042\/BST20160148"},{"key":"12960","doi-asserted-by":"crossref","unstructured":"Sayo A, Ueno S, Kominami T, et al. Longitudinal study of visual field changes determined by Humphrey Field Analyzer 10-2 in patients with retinitis pigmentosa. Sci Rep 2017;7:1-8.","DOI":"10.1038\/s41598-017-16640-7"},{"key":"12961","doi-asserted-by":"crossref","unstructured":"Nguyen XTA, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF. Retinitis pigmentosa: current clinical management and emerging therapies. Int J Mol Sci 2023;24:7481.","DOI":"10.3390\/ijms24087481"},{"key":"12962","doi-asserted-by":"crossref","unstructured":"Vervoort R, Wright AF. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat 2002;19:486-500.","DOI":"10.1002\/humu.10057"},{"key":"12963","doi-asserted-by":"crossref","unstructured":"Sladen PE, Naeem A, Adefila-Ideozu T, et al. AAV-RPGR gene therapy rescues opsin mislocalisation in a human retinal organoid model of -associated X-Linked Retinitis Pigmentosa. Int J Mol Sci 2024;25:1839.","DOI":"10.3390\/ijms25031839"}],"container-title":["Digital Journal of Ophthalmology"],"original-title":[],"link":[{"URL":"https:\/\/djo.harvard.edu\/index.php\/djo\/article\/download\/921\/625","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/djo.harvard.edu\/index.php\/djo\/article\/download\/921\/625","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T22:19:45Z","timestamp":1740349185000},"score":1,"resource":{"primary":{"URL":"https:\/\/djo.harvard.edu\/index.php\/djo\/article\/view\/921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,22]]},"references-count":12,"URL":"https:\/\/doi.org\/10.5693\/djo.02.2024.06.004","relation":{},"ISSN":["1542-8958"],"issn-type":[{"value":"1542-8958","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,22]]}}}