{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T22:37:01Z","timestamp":1789771021768,"version":"4.0.1"},"reference-count":47,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T00:00:00Z","timestamp":1580169600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)\/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations causing a CRD phenotype were situated in exon ORF15. The mean best-corrected visual acuity (BCVA, decimals) was 0.58 (standard deviation (SD)): 0.34; range: 0.05\u20131.13); and the mean spherical refractive error was \u22124.1 D (SD: 2.11; range: \u22121.38 to \u22128.19). Hyperautofluorescent rings were observed in six patients. Full-field electroretinography responses were absent in all patients. The visual field defects ranged from peripheral constriction to central islands. The mean macular sensitivity on microperimetry was 11.6 dB (SD: 7.8; range: 1.6\u201324.4) and correlated significantly with BCVA (r = 0.907; p = 0.001). A histological examination of the donor eye showed disruption of retinal topology and stratification, with a more severe loss found in the peripheral regions. Reactive gliosis was seen in the inner layers of all regions. Our study demonstrates the highly variable phenotype found in RPGR-associated retinal dystrophies. Therapies should be applied at the earliest signs of photoreceptor degeneration, prior to the remodeling of the inner retina.<\/jats:p>","DOI":"10.3390\/ijms21030835","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T09:37:09Z","timestamp":1580204229000},"page":"835","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8350-5896","authenticated-orcid":false,"given":"Xuan-Thanh-An","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mays","family":"Talib","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary J.","family":"van Schooneveld","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Amsterdam UMC, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Brinks","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7884-0067","authenticated-orcid":false,"given":"Jacoline","family":"ten Brink","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph J.","family":"Florijn","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-460X","authenticated-orcid":false,"given":"Jan","family":"Wijnholds","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"},{"name":"Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Meibergdreef 47, 1105 BA Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1437-214X","authenticated-orcid":false,"given":"Robert M.","family":"Verdijk","sequence":"additional","affiliation":[{"name":"Department of Pathology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"},{"name":"Department of Pathology, Section Ophthalmic Pathology, Erasmus MC University Medical Center, Doctor Molewaterplein 40, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur A.","family":"Bergen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands"},{"name":"Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Meibergdreef 47, 1105 BA Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camiel J.F.","family":"Boon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands"},{"name":"Department of Ophthalmology, Amsterdam UMC, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","article-title":"Retinitis pigmentosa","volume":"368","author":"Hartong","year":"2006","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1097\/IAE.0000000000002125","article-title":"Clinical and Genetic characteristics of Male patients with RPGR-associated Retinal Dystrophies: A long-Term Follow-up Study","volume":"39","author":"Talib","year":"2019","journal-title":"RETINA"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2422","DOI":"10.1167\/iovs.17-23739","article-title":"Characterization of Visual Function, 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