{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:07:34Z","timestamp":1789430854591,"version":"build-2803163510"},"reference-count":31,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T00:00:00Z","timestamp":1685318400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CRN-NIHR Oxfordshire Thames Valley\/South Midlands"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.<\/jats:p>","DOI":"10.3390\/genes14061193","type":"journal-article","created":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T02:04:21Z","timestamp":1685412261000},"page":"1193","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation"],"prefix":"10.3390","volume":"14","author":[{"given":"Jennifer","family":"Kirkby","sequence":"first","affiliation":[{"name":"Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2179-907X","authenticated-orcid":false,"given":"Stephanie","family":"Halford","sequence":"additional","affiliation":[{"name":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morag","family":"Shanks","sequence":"additional","affiliation":[{"name":"Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Moore","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK"},{"name":"Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94158, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Gait","sequence":"additional","affiliation":[{"name":"Rare & Inherited Disease Genomic Laboratory, Great Ormond Street for Children NHS Foundation Trust, London WC1N 3JN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Rare & Inherited Disease Genomic Laboratory, Great Ormond Street for Children NHS Foundation Trust, London WC1N 3JN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny","family":"Clouston","sequence":"additional","affiliation":[{"name":"Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chetan K.","family":"Patel","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7373-2665","authenticated-orcid":false,"given":"Susan M.","family":"Downes","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK"},{"name":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/ng1097-164","article-title":"Positional cloning of the gene associated with X-linked juvenile retinoschisis","volume":"17","author":"Sauer","year":"1997","journal-title":"Nat. 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