{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:38:50Z","timestamp":1777581530944,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T00:00:00Z","timestamp":1613260800000},"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":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"\n Purpose:<\/jats:title>\n To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA).<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Observational case report.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex\u2019s and retinal fiber layers\u2019 parameters were normal in both eyes.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.<\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/1120672121995745","type":"journal-article","created":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:11:31Z","timestamp":1613347891000},"page":"NP34-NP37","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia"],"prefix":"10.1177","volume":"32","author":[{"given":"Federica","family":"Fossataro","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples \u201cFederico II\u201d, Naples, Campania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"D\u2019Andrea","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples \u201cFederico II\u201d, Naples, Campania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4253-1929","authenticated-orcid":false,"given":"Gilda","family":"Cennamo","sequence":"additional","affiliation":[{"name":"Eye Clinic, Public Health Department, University of Naples \u201cFederico II\u201d, Naples, Campania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,2,14]]},"reference":[{"key":"bibr1-1120672121995745","first-page":"106","volume":"18","author":"Bellini F","year":"1966","journal-title":"Minerva Pediatr"},{"key":"bibr2-1120672121995745","first-page":"365","volume":"39","author":"Bellini F","year":"1984","journal-title":"Helv Paediatr Acta"},{"key":"bibr3-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03043.x"},{"key":"bibr4-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282fc77ec"},{"key":"bibr5-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01127-6"},{"key":"bibr6-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)74333-8"},{"key":"bibr7-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.10.045"},{"key":"bibr8-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1096\/fj.00-0868fje"},{"key":"bibr9-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2016.12.016"},{"key":"bibr10-1120672121995745","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0135-1"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1120672121995745","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1120672121995745","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1120672121995745","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:45:51Z","timestamp":1777405551000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1120672121995745"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,14]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1177\/1120672121995745"],"URL":"https:\/\/doi.org\/10.1177\/1120672121995745","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,14]]}}}