{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T00:33:46Z","timestamp":1716510826118},"posted":{"date-parts":[[2024,5,23]]},"group-title":"In Review","reference-count":21,"publisher":"Research Square Platform LLC","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,5,8]]},"abstract":"<title>Abstract<\/title>\n        <p>Variants in the retinitis pigmentosa GTPase regulator (<italic>RPGR<\/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 <italic>RPGR<\/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 <italic>RPGR<\/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 (MVAQ). Patients were classified according to retinal phenotypes in males (M), females with male phenotype (FM), and females with radial or focal pattern (FRF). Both M and FM revealed higher rod-function and cone-function anxiety scores (<italic>p<\/italic>\u2009&lt;\u20090.017). Most MRDQ disability scores were higher in M and FM (<italic>p<\/italic>\u2009&lt;\u20090.004). Overall, positive correlations (<italic>p<\/italic>\u2009&lt;\u20090.004) were found between every MRDQ domain and both anxiety scores. In <italic>RPGR<\/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.<\/p>","DOI":"10.21203\/rs.3.rs-4390545\/v1","type":"posted-content","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T18:42:29Z","timestamp":1716489749000},"source":"Crossref","is-referenced-by-count":0,"title":["Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration"],"prefix":"10.21203","author":[{"given":"Nuno","family":"Gouveia","sequence":"first","affiliation":[{"name":"Coimbra University Hospital"}]},{"given":"Oluji","family":"Chukwunalu","sequence":"additional","affiliation":[{"name":"Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra (FMUC)"}]},{"given":"Carolina","family":"Oliveira","sequence":"additional","affiliation":[{"name":"University of Coimbra (FPCEUC)"}]},{"given":"C. Henrique","family":"Alves","sequence":"additional","affiliation":[{"name":"Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra (FMUC)"}]},{"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[{"name":"Coimbra University Hospital"}]},{"given":"Joaquim","family":"Murta","sequence":"additional","affiliation":[{"name":"Coimbra University Hospital"}]},{"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[{"name":"Coimbra University Hospital"}]}],"member":"8761","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/IAE.0000000000003920","article-title":"A systematic literature review of disease progression reported in RPGR-associated X-linked retinitis pigmentosa","volume":"44","author":"Lam BL","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":"ref2","doi-asserted-by":"crossref","first-page":"835","DOI":"10.3390\/ijms21030835","article-title":"RPGR-associated Dystrophies: Clinical, Genetic, and Histopathological Features","volume":"21","author":"Nguyen XT","year":"2020","unstructured":"Nguyen, X.T. et al. RPGR-associated Dystrophies: Clinical, Genetic, and Histopathological Features. International journal of molecular sciences. 21, 835 (2020).","journal-title":"International journal of molecular sciences."},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/aos.16601","article-title":"Correlations between the Michigan Retinal Degeneration Questionnaire and visual function parameters in patients with retinitis pigmentosa","author":"Karuntu JS","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 ophthalmologica. 10.1111\/aos.16601 (2023).","journal-title":"Acta ophthalmologica"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"643","DOI":"10.3390\/genes9120643","article-title":"Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy","volume":"9","author":"Nanda A","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":"ref5","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1007\/s00417-022-05809-0","article-title":"Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes","volume":"261","author":"Marques JP","year":"2023","unstructured":"Marques, J.P. et al. Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes. Graefe's archive for clinical and experimental ophthalmology. 261, 867\u2013878 (2023).","journal-title":"Graefe's archive for clinical and experimental ophthalmology."},{"key":"ref6","doi-asserted-by":"crossref","first-page":"101190","DOI":"10.1016\/j.preteyeres.2023.101190","article-title":"Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies","volume":"96","author":"Gocuk SA","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. Progress in retinal and eye research. 96, 101190 (2023).","journal-title":"Progress in retinal and eye research."},{"key":"ref7","doi-asserted-by":"crossref","first-page":"276","DOI":"10.4103\/sjopt.sjopt_168_23","article-title":"Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy","volume":"37","author":"Wongchaisuwat N","year":"2023","unstructured":"Wongchaisuwat, N. et al. Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy. Saudi journal of ophthalmology: official journal of the Saudi Ophthalmological Society. 37, 276\u2013286 (2023).","journal-title":"Saudi journal of ophthalmology: official journal of the Saudi Ophthalmological Society."},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2024.02.023","author":"Lam BL","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. 10.1016\/j.ophtha.2024.02.023 (2023)."},{"key":"ref9","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1080\/14728214.2022.2152003","article-title":"Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa","volume":"27","author":"Martinez-FernandezCamara C","year":"2022","unstructured":"Martinez-Fernandez de la Camara, C., Cehajic-Kapetanovic, J. & MacLaren, R.E. Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa. Expert opinion on emerging drugs. 27, 431\u2013443 (2022).","journal-title":"Expert opinion on emerging drugs"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1001\/jamaophthalmol.2022.6254","article-title":"Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations","volume":"141","author":"Krusenstiern L","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 ophthalmology. 141, 275\u2013283 (2022).","journal-title":"JAMA ophthalmology"},{"key":"ref11","article-title":"Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene","author":"National Library of Medicine","year":"2024","unstructured":"National Library of Medicine. 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Ophthalmic genetics, 44, 11\u201318 (2021).","journal-title":"Ophthalmic genetics"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ajo.2022.11.021","article-title":"Construct Validity of Inherited Retinal Disease-Specific Patient-Reported Outcome Measures","volume":"248","author":"Jayasundera KT","year":"2023","unstructured":"Jayasundera, K.T. et al. Construct Validity of Inherited Retinal Disease-Specific Patient-Reported Outcome Measures. American journal of ophthalmology. 248, 116\u2013126 (2023).","journal-title":"American journal of ophthalmology."},{"key":"ref15","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ajo.2020.08.032","article-title":"The Michigan Retinal Degeneration Questionnaire: A Patient-Reported Outcome Instrument for Inherited Retinal Degenerations","volume":"222","author":"Lacy GD","year":"2021","unstructured":"Lacy, G.D. et al. 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