{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:26:04Z","timestamp":1787772364952,"version":"build-2784847793"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Spondyloocular syndrome (SOS) is a rare autosomal-recessive disorder. Since 2015, SOS has been linked to mutations in xylosyltransferase II (XYLT2) locus. Phenotypic features could affect multiple systems, such as sight, hearing, or bones. Herein, we report a case of SOS with multiple bone fractures without trauma, bilateral cataracts, and sensorineural hearing loss. Mutations in XYLT2 gene were detected, and the diagnosis of SOS was made. At the age of 8, the patient presented with progressive vision loss. Slit-lamp examination revealed inferior steepening, apical scarring, and thinning of the cornea. Due to keratoconus suspicion, a corneal tomography was done, confirming the diagnosis of keratoconus. We present the first case of bilateral keratoconus in a patient with SOS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ojo.ojo_201_21","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T13:49:17Z","timestamp":1716558557000},"page":"385-388","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation"],"prefix":"10.4103","volume":"15","author":[{"given":"Sara","family":"Fathi-Nieto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Butr\u00f3n-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Garc\u00eda-Soler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Herv\u00e1s-Ontiveros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amparo","family":"Ortiz-Seller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-28-20240908","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1034\/j.1399-0004.2001.590206.x","article-title":"Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred \u2013 A possible new syndrome","volume":"59","author":"Schmidt","year":"2001","journal-title":"Clin Genet"},{"key":"R2-28-20240908","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/S0002-9394(02)02155-4","article-title":"Spondylo-ocular syndrome: A new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly","volume":"135","author":"Rudolph","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"R3-28-20240908","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.ajhg.2015.04.017","article-title":"Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects","volume":"96","author":"Munns","year":"2015","journal-title":"Am J Hum Genet"},{"key":"R4-28-20240908","doi-asserted-by":"crossref","first-page":"144","DOI":"10.3389\/fgene.2019.00144","article-title":"A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family","volume":"10","author":"Kausar","year":"2019","journal-title":"Front Genet"},{"key":"R5-28-20240908","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/ajmg.a.31119","article-title":"Spondylo-ocular syndrome: A new entity involving the eye and spine","volume":"140","author":"Alanay","year":"2006","journal-title":"Am J Med Genet A"},{"key":"R6-28-20240908","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1111\/cge.13179","article-title":"Homozygous XYLT2 variants as a cause of spondyloocular syndrome","volume":"93","author":"Umair","year":"2018","journal-title":"Clin Genet"},{"key":"R7-28-20240908","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1002\/jbmr.2834","article-title":"Spondyloocular syndrome: Novel mutations in XYLT2 gene and expansion of the phenotypic spectrum","volume":"31","author":"Taylan","year":"2016","journal-title":"J Bone Miner Res"},{"key":"R8-28-20240908","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/eye.2013.278","article-title":"The pathogenesis of keratoconus","volume":"28","author":"Davidson","year":"2014","journal-title":"Eye (Lond"},{"key":"R9-28-20240908","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"}],"container-title":["Oman Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ojo.ojo_201_21","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:41:18Z","timestamp":1787769678000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ojo.ojo_201_21"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/ojo.ojo_201_21","relation":{},"ISSN":["0974-620X"],"issn-type":[{"value":"0974-620X","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]}}}