{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T19:15:27Z","timestamp":1771614927133,"version":"3.50.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T00:00:00Z","timestamp":1719878400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T00:00:00Z","timestamp":1719878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants in the retinitis pigmentosa GTPase regulator (<jats:italic>RPGR<\/jats:italic>) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and anxiety of patients with <jats:italic>RPGR<\/jats:italic>-associated retinal degeneration have never been explored before. This study aimed to evaluate self-reported visual function and vision-related anxiety in a Portuguese cohort of male and female patients with <jats:italic>RPGR<\/jats:italic>-associated retinal degeneration using two validated patient-reported outcome measures. Cross-sectional data of thirty-two genetically-tested patients was examined, including scores of the Michigan retinal degeneration questionnaire (MRDQ) and Michigan vision-related anxiety questionnaire. Patients were classified according to retinal phenotypes in males (M), females with male phenotype (FM), and females with radial or focal pattern. Both M and FM revealed higher rod-function and cone-function anxiety scores (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.017). Most MRDQ disability scores were higher in M and FM (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.004). Overall, positive correlations (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.004) were found between every MRDQ domain and both anxiety scores. In <jats:italic>RPGR<\/jats:italic>-associated retinal degeneration, males and females with male phenotype show similar levels of increased vision-related anxiety and disability. Every MRDQ visual function domain showed a strong correlation with anxiety scores.<\/jats:p>","DOI":"10.1038\/s41598-024-66170-2","type":"journal-article","created":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T14:02:46Z","timestamp":1719928966000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration"],"prefix":"10.1038","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-1855-1964","authenticated-orcid":false,"given":"Nuno","family":"Gouveia","sequence":"first","affiliation":[]},{"given":"Oluji","family":"Chukwunalu","sequence":"additional","affiliation":[]},{"given":"Carolina","family":"Oliveira","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-5701","authenticated-orcid":false,"given":"C. Henrique","family":"Alves","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8676-0833","authenticated-orcid":false,"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8926-5176","authenticated-orcid":false,"given":"Joaquim","family":"Murta","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2024,7,2]]},"reference":[{"key":"66170_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/IAE.0000000000003920","volume":"44","author":"BL Lam","year":"2024","unstructured":"Lam, B. L. et al. A systematic literature review of disease progression reported in RPGR-associated X-linked retinitis pigmentosa. Retina (Philadelphia, Pa) 44, 1\u20139 (2024).","journal-title":"Retina (Philadelphia, Pa)"},{"key":"66170_CR2","doi-asserted-by":"publisher","first-page":"835","DOI":"10.3390\/ijms21030835","volume":"21","author":"XT Nguyen","year":"2020","unstructured":"Nguyen, X. T. et al. RPGR-associated dystrophies: Clinical, genetic, and histopathological features. Int. J. Mol. Sci. 21, 835 (2020).","journal-title":"Int. J. Mol. Sci."},{"key":"66170_CR3","doi-asserted-by":"publisher","DOI":"10.1111\/aos.16601","author":"JS Karuntu","year":"2023","unstructured":"Karuntu, J. S., Nguyen, X. T. & Boon, C. J. F. Correlations between the Michigan retinal degeneration questionnaire and visual function parameters in patients with retinitis pigmentosa. Acta Ophthalmol. https:\/\/doi.org\/10.1111\/aos.16601 (2023).","journal-title":"Acta Ophthalmol."},{"key":"66170_CR4","doi-asserted-by":"publisher","first-page":"643","DOI":"10.3390\/genes9120643","volume":"9","author":"A Nanda","year":"2018","unstructured":"Nanda, A., Salvetti, A. P., Clouston, P., Downes, S. M. & MacLaren, R. E. Exploring the variable phenotypes of RPGR carrier females in assessing their potential for retinal gene therapy. Genes 9, 643 (2018).","journal-title":"Genes"},{"key":"66170_CR5","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1007\/s00417-022-05809-0","volume":"261","author":"JP Marques","year":"2023","unstructured":"Marques, J. P. et al. Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes. Graefe\u2019s Arch. Clin. Exp. Ophthalmol. 261, 867\u2013878 (2023).","journal-title":"Graefe\u2019s Arch. Clin. Exp. Ophthalmol."},{"key":"66170_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2023.101190","volume":"96","author":"SA Gocuk","year":"2023","unstructured":"Gocuk, S. A., Jolly, J. K., Edwards, T. L. & Ayton, L. N. Female carriers of X-linked inherited retinal diseases: Genetics, diagnosis, and potential therapies. Prog. Retinal Eye Res. 96, 101190 (2023).","journal-title":"Prog. Retinal Eye Res."},{"key":"66170_CR7","doi-asserted-by":"publisher","first-page":"276","DOI":"10.4103\/sjopt.sjopt_168_23","volume":"37","author":"N Wongchaisuwat","year":"2023","unstructured":"Wongchaisuwat, N. et al. Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy. Saudi J. Ophthalmol. Off. J. Saudi Ophthalmol. Soc. 37, 276\u2013286 (2023).","journal-title":"Saudi J. Ophthalmol. Off. J. Saudi Ophthalmol. Soc."},{"key":"66170_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2024.02.023","author":"BL Lam","year":"2023","unstructured":"Lam, B. L. et al. Assessment of visual function with cotoretigene toliparvovec in X-linked retinitis pigmentosa in the randomized XIRIUS phase 2\/3 study. Ophthalmology https:\/\/doi.org\/10.1016\/j.ophtha.2024.02.023 (2023).","journal-title":"Ophthalmology"},{"key":"66170_CR9","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1080\/14728214.2022.2152003","volume":"27","author":"CM-F de la Camara","year":"2022","unstructured":"de la Camara, C.M.-F., Cehajic-Kapetanovic, J. & MacLaren, R. E. Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa. Expert Opin. Emerg. Drugs 27, 431\u2013443 (2022).","journal-title":"Expert Opin. Emerg. Drugs"},{"key":"66170_CR10","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1001\/jamaophthalmol.2022.6254","volume":"141","author":"L von Krusenstiern","year":"2022","unstructured":"von Krusenstiern, L. et al. Changes in retinal sensitivity associated with cotoretigene toliparvovec in X-linked retinitis pigmentosa with RPGR gene variations. JAMA Ophthalmol. 141, 275\u2013283 (2022).","journal-title":"JAMA Ophthalmol."},{"key":"66170_CR11","unstructured":"National Library of Medicine. Gene Therapy Trial for the Treatment of X-Linked Retinitis Pigmentosa Associated with Variants in the RPGR Gene. https:\/\/www.clinicaltrials.gov\/study\/NCT04671433 (2024)."},{"key":"66170_CR12","doi-asserted-by":"publisher","first-page":"565","DOI":"10.2147\/CEOR.S297287","volume":"13","author":"M Chivers","year":"2021","unstructured":"Chivers, M. et al. The burden of X-linked retinitis pigmentosa on patients and society: A narrative literature review. ClinicoEcon. Outcomes Res. CEOR 13, 565\u2013572 (2021).","journal-title":"ClinicoEcon. Outcomes Res. CEOR"},{"key":"66170_CR13","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1080\/13816810.2022.2144901","volume":"44","author":"LT Popova","year":"2021","unstructured":"Popova, L. T. et al. Effects of duration and number of symptoms on vision-related anxiety in patients with inherited retinal diseases. Ophthalmic Genet. 44, 11\u201318 (2021).","journal-title":"Ophthalmic Genet."},{"key":"66170_CR14","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.ajo.2022.11.021","volume":"248","author":"KT Jayasundera","year":"2023","unstructured":"Jayasundera, K. T. et al. Construct validity of inherited retinal disease-specific patient-reported outcome measures. Am. J. Ophthalmol. 248, 116\u2013126 (2023).","journal-title":"Am. J. Ophthalmol."},{"key":"66170_CR15","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.ajo.2020.08.032","volume":"222","author":"GD Lacy","year":"2021","unstructured":"Lacy, G. D. et al. The Michigan retinal degeneration questionnaire: A patient-reported outcome instrument for inherited retinal degenerations. Am. J. Ophthalmol. 222, 60\u201368 (2021).","journal-title":"Am. J. Ophthalmol."},{"key":"66170_CR16","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.ajo.2020.12.001","volume":"225","author":"GD Lacy","year":"2021","unstructured":"Lacy, G. D. et al. The Michigan vision-related anxiety questionnaire: A psychosocial outcomes measure for inherited retinal degenerations. Am. J. Ophthalmol. 225, 137\u2013146 (2021).","journal-title":"Am. J. Ophthalmol."},{"key":"66170_CR17","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1080\/13816810.2022.2025609","volume":"43","author":"JP Marques","year":"2022","unstructured":"Marques, J. P. et al. Portuguese translation and linguistic validation of the Michigan retinal degeneration questionnaire and the Michigan vision-related anxiety questionnaire in a cohort with inherited retinal degenerations. Ophthalmic Genet. 43, 137\u2013139 (2022).","journal-title":"Ophthalmic Genet."},{"key":"66170_CR18","doi-asserted-by":"publisher","first-page":"1263","DOI":"10.1001\/jamaophthalmol.2021.4774","volume":"139","author":"MF Chiang","year":"2021","unstructured":"Chiang, M. F. The 2021 National Eye Institute Strategic Plan: relating vision to health and quality of life. JAMA Ophthalmol. 139, 1263\u20131265 (2021).","journal-title":"JAMA Ophthalmol."},{"key":"66170_CR19","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.ophtha.2021.09.012","volume":"129","author":"MF Chiang","year":"2022","unstructured":"Chiang, M. F. & Tumminia, S. J. The 2021 National Eye Institute Strategic Plan: Eliminating vision loss and improving quality of life. Ophthalmology 129, 12\u201314 (2022).","journal-title":"Ophthalmology"},{"key":"66170_CR20","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1186\/s13023-020-01591-6","volume":"15","author":"JP Marques","year":"2020","unstructured":"Marques, J. P. et al. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: The IRD-PT. Orphanet J. Rare Dis. 15, 304 (2020).","journal-title":"Orphanet J. Rare Dis."},{"key":"66170_CR21","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1080\/13816810.2023.2191708","volume":"44","author":"JP Marques","year":"2023","unstructured":"Marques, J. P. et al. Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population. Ophthalmic Genet. 44, 334\u2013340 (2023).","journal-title":"Ophthalmic Genet."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-66170-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-66170-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-66170-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T14:09:49Z","timestamp":1719929389000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-66170-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,2]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["66170"],"URL":"https:\/\/doi.org\/10.1038\/s41598-024-66170-2","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,2]]},"assertion":[{"value":"8 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 June 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"15189"}}