{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T13:20:02Z","timestamp":1788441602302,"version":"build-2803163510"},"reference-count":10,"publisher":"BMJ","issue":"7","funder":[{"DOI":"10.13039\/501100005809","name":"Hyderabad Eye Research Foundation","doi-asserted-by":"publisher","award":["intramural"],"award-info":[{"award-number":["intramural"]}],"id":[{"id":"10.13039\/501100005809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,6,27]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>Keratoconus (KC) is a corneal ectasia associated with stromal thinning and biomechanical weakness which induces irregular astigmatism, progressive myopia and poor visual acuity. It is a multifactorial disease and may be associated with underlying ocular and systemic comorbidities. It is known that paediatric KC is aggressive and requires early intervention. Diagnosis relies on corneal topography demonstrating asymmetric steepening, infero-superior asymmetry and focal thinning. However, several conditions can mimic these tomographic features leading to misdiagnosis. Geleophysic dysplasia (GD) is one such rare skeletal dysplasia that may present with KC-like features on tomography. We report a case of a boy in early adolescence with GD misdiagnosed as KC and referred for bilateral corneal collagen cross-linking (CXL). Systemic examination and genetic testing confirmed GD type 1. This case highlights the importance of careful multimodal corneal evaluation in syndromic paediatric patients to avoid misdiagnosis and unnecessary interventions such as CXL.<\/jats:p>","DOI":"10.1136\/bcr-2026-274140","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:50:15Z","timestamp":1784555415000},"page":"e274140","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Pseudokeratoconus in geleophysic dysplasia: a diagnostic pitfall"],"prefix":"10.1136","volume":"19","author":[{"given":"Priyam","family":"Gupta","sequence":"first","affiliation":[{"name":"Cataract and Refractive Surgery, L V Prasad Eye Institute, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goura","family":"Chattannavar","sequence":"additional","affiliation":[{"name":"Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India"},{"name":"Ocular Genetics Services, L V Prasad Eye Institute, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohit","family":"Pushpwan","sequence":"additional","affiliation":[{"name":"Cataract and Refractive Surgery, L V Prasad Eye Institute, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramesh","family":"Kekunnaya","sequence":"additional","affiliation":[{"name":"Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India"},{"name":"Centre for Technology Innovation, L V Prasad Eye Institute, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9614-951X","authenticated-orcid":false,"given":"Rashmi","family":"Deshmukh","sequence":"additional","affiliation":[{"name":"Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,7,20]]},"reference":[{"key":"2026090306051562000_19.7.e274140.1","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1097\/ICO.0000000000002420","article-title":"Keratoconus in Children: A Literature Review","volume":"39","author":"Buzzonetti","year":"2020","journal-title":"Cornea"},{"key":"2026090306051562000_19.7.e274140.2","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1007\/s10792-017-0699-8","article-title":"Pediatric keratoconus: a review of the literature","volume":"38","author":"Mukhtar","year":"2018","journal-title":"Int Ophthalmol"},{"key":"2026090306051562000_19.7.e274140.3","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1586\/17469899.2016.1136215","article-title":"Misdiagnosing Keratoconus","volume":"11","author":"Pi\u00f1ero","year":"2016","journal-title":"Expert Rev Ophthalmol"},{"key":"2026090306051562000_19.7.e274140.4","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2026.1751809","article-title":"Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia","volume":"17","author":"Lee","year":"2026","journal-title":"Front Genet"},{"key":"2026090306051562000_19.7.e274140.5","doi-asserted-by":"crossref","first-page":"3130","DOI":"10.1002\/ajmg.a.36147","article-title":"Similarity of geleophysic dysplasia and Weill-Marchesani syndrome","volume":"161A","author":"Kochhar","year":"2013","journal-title":"Am J Med Genet A"},{"key":"2026090306051562000_19.7.e274140.6","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-00994-x"},{"key":"2026090306051562000_19.7.e274140.7","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics16020193","article-title":"Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia","volume":"16","author":"W\u00f3jcik-Niklewska","year":"2026","journal-title":"Diagnostics (Basel)"},{"key":"2026090306051562000_19.7.e274140.8","article-title":"The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes","volume":"2018","author":"Globa","year":"2018","journal-title":"Case Rep Endocrinol"},{"key":"2026090306051562000_19.7.e274140.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr361"},{"key":"2026090306051562000_19.7.e274140.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-274140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T13:05:25Z","timestamp":1788440725000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-274140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026,7,20]]},"published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1136\/bcr-2026-274140"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-274140","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]}}}