{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:04:26Z","timestamp":1756425866618,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,4,21]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (<jats:italic>CHST6<\/jats:italic>) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.<\/jats:p>","DOI":"10.1136\/bcr-2023-258786","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T12:55:46Z","timestamp":1715172946000},"page":"e258786","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8022-6656","authenticated-orcid":false,"given":"Noopur","family":"Gupta","sequence":"first","affiliation":[{"name":"Ophthalmology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0036-3624","authenticated-orcid":false,"given":"Arnav","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Ophthalmology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Medical Genetics, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema","family":"Sen","sequence":"additional","affiliation":[{"name":"Ocular Pathology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"2025082804392336000_17.5.e258786.1","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1097\/ICO.0b013e31817780fb","article-title":"The IC3D classification of the corneal dystrophies","volume":"27","author":"Weiss","year":"2008","journal-title":"Cornea"},{"key":"2025082804392336000_17.5.e258786.2","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1080\/02713683.2020.1849727","article-title":"Macular corneal dystrophy: an updated review","volume":"46","author":"Singh","year":"2021","journal-title":"Curr Eye Res"},{"key":"2025082804392336000_17.5.e258786.3","first-page":"377","article-title":"Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy","volume":"43","author":"El-Ashry","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2025082804392336000_17.5.e258786.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.12.012"},{"key":"2025082804392336000_17.5.e258786.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.025494"},{"key":"2025082804392336000_17.5.e258786.6","unstructured":"Mota MSB , Pedrosa C , Silva D , et al . Bowman\u2019s layer dystrophy with irido-fundal coloboma in the same patient: a case report. Rev Soc Port Oftalmol 2017;41\u20134."},{"key":"2025082804392336000_17.5.e258786.7","first-page":"730","article-title":"Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India","volume":"9","author":"Sultana","year":"2003","journal-title":"Mol Vis"},{"key":"2025082804392336000_17.5.e258786.8","first-page":"319","article-title":"Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6","volume":"15","author":"Sultana","year":"2009","journal-title":"Mol Vis"},{"key":"2025082804392336000_17.5.e258786.9","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<371::AID-AJMG8>3.0.CO;2-W"},{"key":"2025082804392336000_17.5.e258786.10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.1.33"},{"key":"2025082804392336000_17.5.e258786.11","doi-asserted-by":"crossref","first-page":"844","DOI":"10.6002\/ect.2019.0043","article-title":"Sutureless customized lamellar corneal transplant in a patient with gelatinous drop-like corneal dystrophy","volume":"17","author":"Singh","year":"2019","journal-title":"Exp Clin Transplant"},{"key":"2025082804392336000_17.5.e258786.12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.2006.00722.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-258786","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:39:36Z","timestamp":1756381176000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-258786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,8]]},"published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1136\/bcr-2023-258786"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-258786","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,5]]}}}