{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:02Z","timestamp":1756425782154,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,2]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>Achondroplasia is a genetic condition resulting from specific disruptions in the formation of endochondral bone. Telecanthus, exotropia, angle anomalies and cone\u2013rod dystrophy have been observed as associated ophthalmic features in patients with achondroplasia. Here, we present a case of achondroplasia associated with unique ocular features including telecanthus, esotropia and bilateral microphthalmos. Fundus evaluation revealed a distinctive combination of optic disc anomalies, namely, optic disc coloboma, morning glory disc and optic disc pit maculopathy, along with retroorbital cysts. This represents the first reported case of such a combination of ocular anomalies in achondroplasia.<\/jats:p>","DOI":"10.1136\/bcr-2024-261738","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:55:16Z","timestamp":1732150516000},"page":"e261738","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Myriad of congenital excavated optic disc anomalies in achondroplasia"],"prefix":"10.1136","volume":"17","author":[{"given":"Srishti","family":"Khullar","sequence":"first","affiliation":[{"name":"Ophthalmology, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9439-2268","authenticated-orcid":false,"given":"Vikas","family":"Ambiya","sequence":"additional","affiliation":[{"name":"Ophthalmology, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaurav","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Ophthalmology, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay K","family":"Sharma","sequence":"additional","affiliation":[{"name":"Ophthalmology, Armed Forces Medical College, Pune, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,11,20]]},"reference":[{"key":"2025082800495874000_17.11.e261738.1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-018-0972-6","article-title":"Achondroplasia: a comprehensive clinical review","volume":"14","author":"Pauli","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2025082800495874000_17.11.e261738.2","doi-asserted-by":"crossref","first-page":"537","DOI":"10.4103\/ojo.ojo_42_23","article-title":"Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child","volume":"16","author":"Kishore","year":"2023","journal-title":"Oman J Ophthalmol"},{"key":"2025082800495874000_17.11.e261738.3","doi-asserted-by":"crossref","first-page":"522","DOI":"10.4103\/0974-9233.167819","article-title":"Achondroplasia and Macular Coloboma","volume":"22","author":"Ahoor","year":"2015","journal-title":"Middle East Afr J Ophthalmol"},{"key":"2025082800495874000_17.11.e261738.4","doi-asserted-by":"crossref","first-page":"302","DOI":"10.3341\/kjo.2010.24.5.302","article-title":"A case of chorioretinal coloboma in a patient with achondroplasia","volume":"24","author":"Yoo","year":"2010","journal-title":"Korean J Ophthalmol"},{"key":"2025082800495874000_17.11.e261738.5","article-title":"Achondroplasia associated with bilateral keratoconus","volume":"2012","author":"Al Mahmood","year":"2012","journal-title":"Case Rep Ophthalmol Med"},{"key":"2025082800495874000_17.11.e261738.6","doi-asserted-by":"crossref","first-page":"2086","DOI":"10.1038\/s41433-021-01501-5","article-title":"Ocular coloboma-a comprehensive review for the clinician","volume":"35","author":"Lingam","year":"2021","journal-title":"Eye (Lond)"},{"key":"2025082800495874000_17.11.e261738.7","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12778"},{"key":"2025082800495874000_17.11.e261738.8","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2016-215846","article-title":"Rare bilateral presentation of morning glory disc anomaly","volume":"2016","author":"Dedhia","year":"2016","journal-title":"BMJ Case Rep"},{"key":"2025082800495874000_17.11.e261738.9","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/sj.eye.6701545","article-title":"Congenital disorders of the optic nerve: excavations and hypoplasia","volume":"18","author":"Dutton","year":"2004","journal-title":"Eye (Lond)"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:50:09Z","timestamp":1756367409000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":9,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,11,20]]},"published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1136\/bcr-2024-261738"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261738","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,11]]}}}