{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:10:03Z","timestamp":1756307403343,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"unspecified","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,10,18]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>Osteogenesis imperfecta is a congenital disease that presents with varying degrees of connective tissue symptoms, including susceptibility to fracture, growth disorders and hearing loss. Here, we discuss a case in which macular neovascularisation (MNV) resulted in metamorphopsia and decreased visual acuity in a patient with osteogenesis imperfecta exhibiting a novel <jats:italic>COL1A1<\/jats:italic> gene mutation (p.Tyr165*). The patient was a woman in her 30s who reported experiencing distorted vision and diminished visual acuity in her right eye for 1\u2009month as well as a history of hearing loss. Rapid improvements in exudative changes and suppression of relapse were achieved after only two intravitreal injections of ranibizumab. Furthermore, since MNV occurred slightly inferior to the fovea centralis, improvements in visual acuity were better than previously reported. As fragility of Bruch\u2019s membrane represents the basis of onset, recurrence and relapse are likely in patients exhibiting MNV, highlighting the need for regular follow-up.<\/jats:p>","DOI":"10.1136\/bcr-2022-251763","type":"journal-article","created":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T09:30:51Z","timestamp":1667813451000},"page":"e251763","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Macular neovascularisation in a patient with osteogenesis imperfecta exhibiting a novel <i>COL1A1<\/i> mutation"],"prefix":"10.1136","volume":"15","author":[{"given":"Yoshiki","family":"Sato","sequence":"first","affiliation":[{"name":"Ophthalmology, Oita University Hospital, Yufu, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9845-3379","authenticated-orcid":false,"given":"Kenichi","family":"Kimoto","sequence":"additional","affiliation":[{"name":"Ophthalmology, Oita University Hospital, Yufu, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Takaki","sequence":"additional","affiliation":[{"name":"Takaki Eye Clinic, Oita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiaki","family":"Kubota","sequence":"additional","affiliation":[{"name":"Ophthalmology, Oita University Hospital, Yufu, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,11,7]]},"reference":[{"key":"2025082707461593000_15.11.e251763.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"2025082707461593000_15.11.e251763.2","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1159\/000304777","article-title":"Ocular anomalies in osteogenesis imperfecta","volume":"149","author":"Manschot","year":"1965","journal-title":"Ophthalmologica"},{"key":"2025082707461593000_15.11.e251763.3","first-page":"201174","article-title":"Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association","volume":"20","author":"Wallace","year":"2014","journal-title":"Mol Vis"},{"key":"2025082707461593000_15.11.e251763.4","doi-asserted-by":"crossref","first-page":"229","DOI":"10.4103\/0301-4738.95882","article-title":"Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta","volume":"60","author":"Rishi","year":"2012","journal-title":"Indian J Ophthalmol"},{"key":"2025082707461593000_15.11.e251763.5","doi-asserted-by":"crossref","first-page":"NP21","DOI":"10.1177\/1120672118811247","article-title":"Multimodal imaging in a young male with osteogenesis imperfecta complicated with choroidal neovascularization","volume":"30","author":"Bellanca","year":"2020","journal-title":"Eur J Ophthalmol"},{"key":"2025082707461593000_15.11.e251763.6","doi-asserted-by":"crossref","first-page":"e159","DOI":"10.1111\/aos.13242","article-title":"Subretinal neovascularization as the\u00a0only ocular sign of osteogenesis imperfecta: a\u00a0case report","volume":"95","author":"Klug","year":"2017","journal-title":"Acta Ophthalmol"},{"key":"2025082707461593000_15.11.e251763.7","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1016\/j.ophtha.2018.03.040","article-title":"Whole-exome sequencing in age-related macular degeneration identifies rare variants in COL8A1, a component of Bruch's membrane","volume":"125","author":"Corominas","year":"2018","journal-title":"Ophthalmology"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-251763","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:46:23Z","timestamp":1756305983000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-251763"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":7,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11,7]]},"published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1136\/bcr-2022-251763"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-251763","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}