{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T17:46:28Z","timestamp":1791740788582,"version":"4.3.4"},"reference-count":9,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"abstract":"\n Purpose:<\/jats:title>\n \n To describe the presentation, management, and genetic diagnosis of a young adult with\n CTNNB1<\/jats:italic>\n -associated vitreoretinopathy and a vasoproliferative retinal tumor.\n <\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n A single case was evaluated.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n A 22-year-old woman presented with progressive tractional changes in the left eye due to a peripheral vasoproliferative retinal tumor and exudative retinal detachment. She underwent primary vitrectomy with membrane peeling, endolaser, cryotherapy, and intravitreal antivascular endothelial growth factor, followed by vitrectomy and scleral buckling for recurrent detachment. Additional findings included contralateral chorioretinal coloboma and high refractive error. Retinal reattachment and vasoproliferative retinal tumor involution were achieved with surgery. Fluorescein angiography revealed peripheral avascularity in the right eye and leakage from the vasoproliferative retinal tumor in the left. Exome sequencing identified a heterozygous de novo\n CTNNB1<\/jats:italic>\n variant, consistent with\n CTNNB1<\/jats:italic>\n -associated syndrome. This case expands the known ophthalmic phenotype to include secondary vasoproliferative retinal tumor complicating\n CTNNB1<\/jats:italic>\n -associated vitreoretinopathy.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n Discrete vasoproliferative retinal tumor and chorioretinal coloboma represent underrecognized features of\n CTNNB1<\/jats:italic>\n -related vitreoretinopathy. Early recognition, surgical intervention, and genetic testing are critical in young patients with atypical vitreoretinal disease.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/24741264261491129","type":"journal-article","created":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:58:31Z","timestamp":1791471511000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Exudative Vitreoretinopathy and Vasoproliferative Retinal Lesion in\n CTNNB1<\/i>\n Syndrome"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6549-3182","authenticated-orcid":false,"given":"Louis K.","family":"Aghanwa","sequence":"first","affiliation":[{"name":"Donald & Barbara Zucker School of Medicine at Hofstra\/Northwell, Hempstead, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliaa","family":"Abdelhakim","sequence":"additional","affiliation":[{"name":"Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA"},{"name":"Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Marr","sequence":"additional","affiliation":[{"name":"Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA"},{"name":"Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano R.","family":"Barile","sequence":"additional","affiliation":[{"name":"Donald & Barbara Zucker School of Medicine at Hofstra\/Northwell, Hempstead, NY, USA"},{"name":"Department of Ophthalmology, Manhattan Eye, Ear & Throat Hospital, New York, NY, USA"},{"name":"Northwell Health, New Hyde Park, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,10,8]]},"reference":[{"key":"e_1_3_4_2_2","first-page":"100483","article-title":"Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome","volume":"6","author":"\u017dakelj N","year":"2025","unstructured":"\u017dakelj N, Gosar D, Miro\u0161evi\u010d S, et al. Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome. HGG Adv. 2025;6:100483.","journal-title":"HGG Adv"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02239-3"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2024.2847"},{"issue":"8","key":"e_1_3_4_5_2","first-page":"247","article-title":"Ultrasound diagnosis in vasoproliferative tumours of the ocular fundus","volume":"86","author":"Pi\u00f1eiro-Ces A","year":"2011","unstructured":"Pi\u00f1eiro-Ces A, Blanco-Teijeiro MJ, Mera-Y\u00e1\u00f1ez MP, Capeans-Tome C. Ultrasound diagnosis in vasoproliferative tumours of the ocular fundus. Arch Soc Esp Oftalmol. 2011;86(8):247-253.","journal-title":"Arch Soc Esp Oftalmol"},{"key":"e_1_3_4_6_2","first-page":"597","volume-title":"Ophthalmology","author":"Diaz JD","unstructured":"Diaz JD, Albini TA. Retinal vascular diseases. In: Yanoff M, Duker JS, eds. Ophthalmology. 6th ed. Elsevier; 2023:597-603.","edition":"6"},{"key":"e_1_3_4_7_2","first-page":"465","volume-title":"The Developing Human: Clinically Oriented Embryology","author":"Wigle JT","unstructured":"Wigle JT, Eisenstat DD. WNT\/\u03b2-catenin pathway. In: Persaud TVN, Torchia MG, eds. The Developing Human: Clinically Oriented Embryology. 21st ed. Elsevier; 2023:465-482.","edition":"21"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1723118"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.64.2.18"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2018.11.008"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261491129","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264261491129","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261491129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T17:03:59Z","timestamp":1791738239000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264261491129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,8]]},"references-count":9,"alternative-id":["10.1177\/24741264261491129"],"URL":"https:\/\/doi.org\/10.1177\/24741264261491129","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,8]]},"article-number":"24741264261491129"}}