{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T04:05:36Z","timestamp":1767845136831,"version":"3.49.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Graefes Arch Clin Exp Ophthalmol"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1007\/s00417-022-05809-0","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T03:22:25Z","timestamp":1662088945000},"page":"867-878","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes"],"prefix":"10.1007","volume":"261","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"first","affiliation":[]},{"given":"Rosa","family":"Pinheiro","sequence":"additional","affiliation":[]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[]},{"given":"Miguel","family":"Raimundo","sequence":"additional","affiliation":[]},{"given":"M\u00e1rio","family":"Soares","sequence":"additional","affiliation":[]},{"given":"Pedro","family":"Melo","sequence":"additional","affiliation":[]},{"given":"Joaquim","family":"Murta","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Saraiva","sequence":"additional","affiliation":[]},{"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"5809_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/J.Preteyeres.2018.03.005","volume":"66","author":"SK Verbakel","year":"2018","unstructured":"Verbakel SK, Van Huet RAC, Boon CJF, Den Hollander AI, Collin RWJ, Klaver CCW et al (2018) Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 66:157\u2013186. https:\/\/doi.org\/10.1016\/J.Preteyeres.2018.03.005","journal-title":"Prog Retin Eye Res"},{"issue":"12","key":"5809_CR2","doi-asserted-by":"publisher","first-page":"643","DOI":"10.3390\/Genes9120643","volume":"9","author":"A Nanda","year":"2018","unstructured":"Nanda A, Salvetti AP, Clouston P, Downes SM, MacLaren RE (2018) Exploring the variable phenotypes of RPGR carrier females in assessing their potential for retinal gene therapy. Genes (Basel) 9(12):643. https:\/\/doi.org\/10.3390\/Genes9120643","journal-title":"Genes (Basel)"},{"key":"5809_CR3","doi-asserted-by":"publisher","first-page":"100898","DOI":"10.1016\/J.Preteyeres.2020.100898","volume":"82","author":"SR De Silva","year":"2021","unstructured":"De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD et al (2021) The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. Prog Retin Eye Res 82:100898. https:\/\/doi.org\/10.1016\/J.Preteyeres.2020.100898","journal-title":"Prog Retin Eye Res"},{"key":"5809_CR4","doi-asserted-by":"publisher","first-page":"600210","DOI":"10.3389\/Fgene.2021.600210","volume":"12","author":"J Yang","year":"2021","unstructured":"Yang J, Zhou L, Ouyang J, Xiao X, Sun W, Li S, Zhang Q (2021) Genotype-phenotype analysis of RPGR variations: reporting of 62 Chinese families and a literature review. Front Genet 12:600210. https:\/\/doi.org\/10.3389\/Fgene.2021.600210","journal-title":"Front Genet"},{"issue":"5","key":"5809_CR5","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1016\/0014-4835(89)90009-2","volume":"48","author":"SG Jacobson","year":"1989","unstructured":"Jacobson SG, Yagasaki K, Feuer WJ, Roman AJ (1989) Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res 48(5):679\u2013691. https:\/\/doi.org\/10.1016\/0014-4835(89)90009-2","journal-title":"Exp Eye Res"},{"issue":"9","key":"5809_CR6","doi-asserted-by":"publisher","first-page":"1899","DOI":"10.1016\/J.Ophtha.2015.05.039","volume":"122","author":"J Comander","year":"2015","unstructured":"Comander J, Weigel-Difranco C, Sandberg MA, Berson EL (2015) Visual function in carriers of X-linked retinitis pigmentosa. Ophthalmology 122(9):1899\u20131906. https:\/\/doi.org\/10.1016\/J.Ophtha.2015.05.039","journal-title":"Ophthalmology"},{"key":"5809_CR7","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1007\/978-3-319-17121-0_43","volume":"854","author":"AT Fahim","year":"2016","unstructured":"Fahim AT, Daiger SP (2016) The role of X-chromosome inactivation in retinal development and disease. Adv Exp Med Biol 854:325\u2013331. https:\/\/doi.org\/10.1007\/978-3-319-17121-0_43","journal-title":"Adv Exp Med Biol"},{"issue":"5","key":"5809_CR8","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1016\/J.Oret.2019.11.010","volume":"4","author":"AT Fahim","year":"2020","unstructured":"Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW et al (2020) X-chromosome inactivation is a biomarker of clinical severity in female carriers of RPGR-associated X-linked retinitis pigmentosa. Ophthalmol Retina 4(5):510\u2013520. https:\/\/doi.org\/10.1016\/J.Oret.2019.11.010","journal-title":"Ophthalmol Retina"},{"issue":"1","key":"5809_CR9","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1159\/000503687","volume":"244","author":"AP Salvetti","year":"2021","unstructured":"Salvetti AP, Nanda A, MacLaren RE (2021) RPGR-related X-linked retinitis pigmentosa carriers with a severe \u201cmale pattern\u201d. Ophthalmologica 244(1):60\u201367. https:\/\/doi.org\/10.1159\/000503687","journal-title":"Ophthalmologica"},{"issue":"3","key":"5809_CR10","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1080\/13816810.2021.1881981","volume":"42","author":"DA Kilgore","year":"2021","unstructured":"Kilgore DA, Kilgore TA, Sukpraprut-Braaten S, Schaefer GB, Uwaydat SH (2021) Multimodal imaging of an RPGR carrier female. Ophthalmic Genet 42(3):312\u2013316. https:\/\/doi.org\/10.1080\/13816810.2021.1881981","journal-title":"Ophthalmic Genet"},{"issue":"10","key":"5809_CR11","doi-asserted-by":"publisher","first-page":"4123","DOI":"10.1167\/Iovs.17-23453","volume":"59","author":"M Talib","year":"2018","unstructured":"Talib M, Van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ et al (2018) The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene. Invest Ophthalmol Vis Sci 59(10):4123\u20134133. https:\/\/doi.org\/10.1167\/Iovs.17-23453","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"2","key":"5809_CR12","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/S0161-6420(99)00045-7","volume":"107","author":"S Grover","year":"2000","unstructured":"Grover S, Fishman GA, Anderson RJ, Lindeman M (2000) A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 107(2):386\u2013396. https:\/\/doi.org\/10.1016\/S0161-6420(99)00045-7","journal-title":"Ophthalmology"},{"issue":"10","key":"5809_CR13","doi-asserted-by":"publisher","first-page":"4759","DOI":"10.1167\/Iovs.07-0453","volume":"48","author":"TS Aleman","year":"2007","unstructured":"Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA et al (2007) Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci 48(10):4759\u20134765. https:\/\/doi.org\/10.1167\/Iovs.07-0453","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"12","key":"5809_CR14","doi-asserted-by":"publisher","first-page":"3597","DOI":"10.1007\/S00417-021-05233-W","volume":"259","author":"TH Birtel","year":"2021","unstructured":"Birtel TH, Birtel J, Hess K, Clemens AC, Lindner M, Herrmann P et al (2021) Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol 259(12):3597\u20133604. https:\/\/doi.org\/10.1007\/S00417-021-05233-W","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"5809_CR15","doi-asserted-by":"publisher","first-page":"18384","DOI":"10.14670\/Hh-18-384","volume":"37","author":"H Gao","year":"2021","unstructured":"Gao H, Huang X, He J, Zou T, Chen X, Xu H (2021) The roles of microglia in neural remodeling during retinal degeneration. Histol Histopathol 37:18384. https:\/\/doi.org\/10.14670\/Hh-18-384","journal-title":"Histol Histopathol"},{"issue":"1","key":"5809_CR16","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1186\/S13023-020-01591-6","volume":"15","author":"JP Marques","year":"2020","unstructured":"Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R (2020) Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis 15(1):304. https:\/\/doi.org\/10.1186\/S13023-020-01591-6","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"5809_CR17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/Gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/Gim.2015.30","journal-title":"Genet Med"},{"issue":"1","key":"5809_CR18","doi-asserted-by":"publisher","first-page":"159","DOI":"10.2307\/2529310","volume":"33","author":"JR Landis","year":"1977","unstructured":"Landis JR, Koch GG (1977) The measurement of observer agreement for categorical data. Biometrics 33(1):159\u2013174 https:\/\/www.Ncbi.Nlm.Nih.Gov\/Pubmed\/843571","journal-title":"Biometrics"},{"issue":"4","key":"5809_CR19","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1076\/Opge.24.4.215.17228","volume":"24","author":"S Andreasson","year":"2003","unstructured":"Andreasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S et al (2003) Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 And RPGR-ORF15 genes. Ophthalmic Genet 24(4):215\u2013223. https:\/\/doi.org\/10.1076\/Opge.24.4.215.17228","journal-title":"Ophthalmic Genet"},{"issue":"8","key":"5809_CR20","doi-asserted-by":"publisher","first-page":"1306","DOI":"10.18240\/Ijo.2020.08.18","volume":"13","author":"HP Li","year":"2020","unstructured":"Li HP, Yuan SQ, Wang XG, Sheng XL, Li XR (2020) Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene. Int J Ophthalmol 13(8):1306\u20131311. https:\/\/doi.org\/10.18240\/Ijo.2020.08.18","journal-title":"Int J Ophthalmol"},{"issue":"3","key":"5809_CR21","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1038\/Eye.2008.427","volume":"23","author":"A Al-Maskari","year":"2009","unstructured":"Al-Maskari A, O\u2019Grady A, Pal B, Mckibbin M (2009) Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Eye (Lond) 23(3):519\u2013521. https:\/\/doi.org\/10.1038\/Eye.2008.427","journal-title":"Eye (Lond)"},{"key":"5809_CR22","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/J.Ajo.2017.07.008","volume":"182","author":"M Hendriks","year":"2017","unstructured":"Hendriks M, Verhoeven VJM, Buitendijk GHS, Polling JR, Meester-Smoor MA, Hofman A et al (2017) Development of refractive errors-qhat can we learn from inherited retinal dystrophies? Am J Ophthalmol 182:81\u201389. https:\/\/doi.org\/10.1016\/J.Ajo.2017.07.008","journal-title":"Am J Ophthalmol"},{"issue":"2","key":"5809_CR23","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1080\/13816810.2019.1605385","volume":"40","author":"H Sanchez Tocino","year":"2019","unstructured":"Sanchez Tocino H, Diez Montero C, Villanueva Gomez A, Lobo Valentin R, Montero-Moreno JA (2019) Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Ophthalmic Genet 40(2):170\u2013176. https:\/\/doi.org\/10.1080\/13816810.2019.1605385","journal-title":"Ophthalmic Genet"},{"key":"5809_CR24","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.2147\/Opth.S89371","volume":"9","author":"K Ogino","year":"2015","unstructured":"Ogino K, Oishi M, Oishi A, Morooka S, Sugahara M, Gotoh N et al (2015) Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa. Clin Ophthalmol 9:1467\u20131474. https:\/\/doi.org\/10.2147\/Opth.S89371","journal-title":"Clin Ophthalmol"},{"key":"5809_CR25","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/J.Preteyeres.2015.06.003","volume":"51","author":"E Vecino","year":"2016","unstructured":"Vecino E, Rodriguez FD, Ruzafa N, Pereiro X, Sharma SC (2016) Glia-neuron interactions in the mammalian retina. Prog Retin Eye Res 51:1\u201340. https:\/\/doi.org\/10.1016\/J.Preteyeres.2015.06.003","journal-title":"Prog Retin Eye Res"},{"issue":"18","key":"5809_CR26","doi-asserted-by":"publisher","first-page":"4540","DOI":"10.1523\/Jneurosci.0492-05.2005","volume":"25","author":"A Rattner","year":"2005","unstructured":"Rattner A, Nathans J (2005) The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia. J Neurosci 25(18):4540\u20134549. https:\/\/doi.org\/10.1523\/Jneurosci.0492-05.2005","journal-title":"J Neurosci"},{"issue":"3","key":"5809_CR27","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1080\/21678707.2018.1444476","volume":"6","author":"C Martinez-Fernandez De La Camara","year":"2018","unstructured":"Martinez-Fernandez De La Camara C, Nanda A, Salvetti AP, Fischer MD, MacLaren RE (2018) Gene therapy for the treatment of X-linked retinitis pigmentosa. Expert Opin Orphan Drugs 6(3):167\u2013177. https:\/\/doi.org\/10.1080\/21678707.2018.1444476","journal-title":"Expert Opin Orphan Drugs"}],"container-title":["Graefe's Archive for Clinical and Experimental Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-022-05809-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00417-022-05809-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-022-05809-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T11:37:28Z","timestamp":1678102648000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00417-022-05809-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,2]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["5809"],"URL":"https:\/\/doi.org\/10.1007\/s00417-022-05809-0","relation":{},"ISSN":["0721-832X","1435-702X"],"issn-type":[{"value":"0721-832X","type":"print"},{"value":"1435-702X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,2]]},"assertion":[{"value":"17 April 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 August 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the Human Research Ethics Committee (HREC) of Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}