{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:58:03Z","timestamp":1790445483334,"version":"4.1.0"},"posted":{"date-parts":[[2026,9,23]]},"group-title":"Developmental Biology","reference-count":84,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,9,22]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                <jats:p>\n                  The molecular programs that establish specialized retinal regions during development are essential for high-acuity vision, yet how their disruption contributes to human visual disorders remains poorly understood. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), caused by pathogenic variants in\n                  <jats:italic>NR2F1<\/jats:italic>\n                  and characterized by visual impairment, provides an opportunity to investigate these mechanisms. Using single-cell RNA sequencing of three complementary\n                  <jats:italic>Nr2f1<\/jats:italic>\n                  mouse models, including two carrying patient-specific mutations, we identified a shared\n                  <jats:italic>Nr2f1<\/jats:italic>\n                  -dependent transcriptional program enriched in retinoic acid (RA) pathway genes. Loss or mutation of\n                  <jats:italic>Nr2f1<\/jats:italic>\n                  disrupted the spatial organization of RA signaling, most prominently by expanding the dorso-equatorial\n                  <jats:italic>Cyp26a1<\/jats:italic>\n                  expression domain into ventral retina and reducing ventral determinants such as\n                  <jats:italic>Vax2<\/jats:italic>\n                  . These molecular changes were associated with altered dorso-ventral distribution of S-and M-opsin-expressing cone photoreceptors. We further demonstrate that human NR2F1 binds a conserved regulatory region upstream of\n                  <jats:italic>CYP26A1<\/jats:italic>\n                  , supporting its direct role in regulating local RA availability. Finally, high-resolution optical coherence tomography in individuals with BBSOAS revealed reproducible foveal abnormalities, including a smaller and shallower foveal pit and increased central retinal thickness, consistent with foveal hypoplasia. These findings uncover a previously unrecognized retina-intrinsic component of BBSOAS visual pathology and establish an NR2F1-RA\/CYP26A1 regulatory axis linking developmental retinal regionalization to human foveal specialization.\n                <\/jats:p>","DOI":"10.64898\/2026.09.22.753406","type":"posted-content","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:50:12Z","timestamp":1790153412000},"source":"Crossref","is-referenced-by-count":0,"title":["An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-7694-7687","authenticated-orcid":false,"given":"Paolo","family":"Piovani","sequence":"first","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, CNRS, Inserm, iBV, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8677-1783","authenticated-orcid":false,"given":"Carole","family":"Belliardo","sequence":"additional","affiliation":[{"name":"Maison de la Mod\u00e9lisation, de la Simulation et des Interactions (MSI), Universit\u00e9 C\u00f4te d\u2019Azur, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9077-8945","authenticated-orcid":false,"given":"Rahul","family":"Makam","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"Institute of Ophthalmology, University College London, London, UK"},{"name":"Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boglarka","family":"Zambo","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, CNRS, Inserm, iBV, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5015-4122","authenticated-orcid":false,"given":"Annabelle","family":"Mantilleri","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, CNRS, Inserm, iBV, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1242-9456","authenticated-orcid":false,"given":"Amandine","family":"Chassot","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, CNRS, Inserm, iBV, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8597-3711","authenticated-orcid":false,"given":"Gergo","family":"Gogl","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d\u2019Azur, CNRS, Inserm, iBV, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2148-7490","authenticated-orcid":false,"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1338-8476","authenticated-orcid":false,"given":"Seth","family":"Blackshaw","sequence":"additional","affiliation":[{"name":"Solomon H. 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