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Idiopathic cases are seen in the absence of inherited or acquired predisposing conditions and referred to as stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR). Our study aimed to clinically and genetically characterize females\u00a0presenting with foveoschisis (including affected male siblings where present).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Five patients (3 females and 2 males) from 3 consanguineous families presenting with\u00a0foveoschisis underwent complete ophthalmological evaluation, multimodal imaging including color, infrared, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), electroretinogram (ERG), and molecular evaluation including Sanger sequencing of\u00a0the\n                      <jats:italic>RS1<\/jats:italic>\n                      \u00a0gene and whole exome sequencing (WES). Main outcome measures were age at first visit, best-corrected visual acuity (BCVA), peripheral retinal changes, FAF pattern, ERG findings, and\u00a0\n                      <jats:italic>RS1<\/jats:italic>\n                      \u00a0variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The mean age\u00a0was 21.8\u00a0years. The BCVA ranged from 20\/100 to 20\/20. Peripheral retinal changes ranged from a tapetal reflex, peripheral retinoschisis, vitreous veils, to vitreoretinal traction. A ring of increased signal was the most common FAF abnormality, while one patient exhibited\u00a0a double-ring hyperautofluorescence. All patients demonstrated an electronegative ERG. One female was considered to have a molecularly undiagnosed inherited retinal disease (IRD). Another female was considered stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) after exclusion of other causes. Three patients showed a novel nonsense variant in\u00a0the\n                      <jats:italic>RS1<\/jats:italic>\n                      \u00a0gene;\u00a0homozygous in the female sibling and hemizygous in the male siblings. Familial segregation revealed an unaffected father and a carrier mother. Trio SNP array confirmed maternal segmental uniparental isodisomy (seg UPiD).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first reported X-linked retinoschisis (XLRS) case with seg UPiD. We emphasize the significance of SNP arrays in elucidating non-Mendelian inheritance cases. We report a novel variant, which is the first\u00a0to be detected in the RS1 domain in a female.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10633-025-10053-y","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:09:04Z","timestamp":1761102544000},"page":"145-158","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis"],"prefix":"10.1007","volume":"152","author":[{"given":"Nagham Maher","family":"Elbagoury","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona Lotfi","family":"Essawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba Mahmoud","family":"Fathy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola Mohamed","family":"Eid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Nabih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal Mahmoud","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5856-2135","authenticated-orcid":false,"given":"Caroline Atef","family":"Tawfik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,22]]},"reference":[{"issue":"3","key":"10053_CR1","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/j.preteyeres.2011.12.002","volume":"31","author":"RS Molday","year":"2012","unstructured":"Molday RS, Kellner U, Weber BHF (2012) X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. 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