{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T03:51:29Z","timestamp":1793332289127,"version":"4.5.0"},"reference-count":9,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,15]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>Microcoria and acorea are uncommon congenital anomalies characterised by the abnormal development of the pupillary aperture. We report a rare and complex presentation in a male patient in his early 40\u2009s: the right eye demonstrated a cryptic, rudimentary pupillary opening located inferiorly, associated with microphthalmia and retinal detachment, while the left eye exhibited a classic iris coloboma and dense cataract. The right eye showed complete pupillary agenesis refractory to pharmacologic dilation, with no light perception, while the left eye retained limited vision. Slit-lamp and ultrasonography findings confirmed the structural anomalies. No surgical intervention was pursued for the right eye, but cataract management was planned for the left. This presentation highlights the importance of early identification of congenital pupillary abnormalities and the phenotypic variability of ocular developmental disorders.<\/jats:p>","DOI":"10.1136\/bcr-2025-266629","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T14:20:18Z","timestamp":1756218018000},"page":"e266629","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Unilateral acorea turned cryptic microcoria with contralateral iris coloboma with cataract: a rare misdiagnosed anomaly"],"prefix":"10.1136","volume":"18","author":[{"given":"Dharamveer Singh","family":"Choudhary","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Swai Man Singh Medical College and Hospitals, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Twinkle","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Swai Man Singh Medical College and Hospitals, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darshit","family":"Bariya","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Swai Man Singh Medical College and Hospitals, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Dhakad","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Swai Man Singh Medical College and Hospitals, Jaipur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhuvanesh Sukhlal","family":"Kalal","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Nutrional Sciences, University of Kentucky, College of Medicine, Lexington, Kentucky, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,8,26]]},"reference":[{"key":"2025082607201305000_18.8.e266629.1","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics8010019","article-title":"Eyeing up the Future of the Pupillary Light Reflex in Neurodiagnostics","volume":"8","author":"Hall","year":"2018","journal-title":"Diagnostics (Basel)"},{"key":"2025082607201305000_18.8.e266629.2","doi-asserted-by":"crossref","DOI":"10.4103\/ijo.IJO_900_17","article-title":"Acorea: A rare congenital anomaly","volume":"66","author":"Ramasubramanian","year":"2018","journal-title":"Indian J Ophthalmol"},{"key":"2025082607201305000_18.8.e266629.3","doi-asserted-by":"crossref","first-page":"85","DOI":"10.4103\/jcor.jcor_22_20","article-title":"A rare case of acorea","volume":"9","author":"Priyambada","year":"2021","journal-title":"Journal of Clinical Ophthalmology and Research"},{"key":"2025082607201305000_18.8.e266629.4","doi-asserted-by":"crossref","DOI":"10.1186\/s12886-022-02422-x","article-title":"A rare case of congenital pupillary abnormality: a case report","volume":"22","author":"Hao","year":"2022","journal-title":"BMC Ophthalmol"},{"key":"2025082607201305000_18.8.e266629.5","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2013-303165"},{"key":"2025082607201305000_18.8.e266629.6","doi-asserted-by":"crossref","DOI":"10.3390\/genes12050624","article-title":"Congenital Microcoria: Clinical Features and Molecular Genetics","volume":"12","author":"Ang\u00e9e","year":"2021","journal-title":"Genes (Basel)"},{"key":"2025082607201305000_18.8.e266629.7","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijscr.2024.110717","article-title":"Surgical pupil reconstruction for congenital idiopathic acorea with lens transparency saving. Case report","volume":"126","author":"Bobrova","year":"2025","journal-title":"Int J Surg Case Rep"},{"key":"2025082607201305000_18.8.e266629.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)68581-4"},{"key":"2025082607201305000_18.8.e266629.9","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/s41431-023-01503-9","article-title":"Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome","volume":"32","author":"Dong","year":"2024","journal-title":"Eur J Hum Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266629","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T14:20:20Z","timestamp":1756218020000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8,26]]},"published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1136\/bcr-2025-266629"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266629","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]}}}