{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T07:55:56Z","timestamp":1774511756784,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a 39\u2010year\u2010old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye. Neurological workup revealed bilaterally blurred optic discs, an elevated cerebrospinal fluid opening pressure of 31\u2009cm H\n                    <jats:sub>2<\/jats:sub>\n                    O that normalized on repeat lumbar puncture, nonspecific white matter signal changes on MRI, and bilateral frontal polymicrogyria. Initial mild homocysteine elevation prompted consideration of homocystinuria; however, whole\u2010exome sequencing identified a homozygous frameshift mutation in COL18A1 (c.2824_2831del, p.Gly942Argfs*142), confirming Knobloch syndrome type 1. This case illustrates an adult presentation of Knobloch syndrome with retinitis pigmentosa\u2010like retinal changes and lens dislocation mimicking homocystinuria.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72148","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:59:19Z","timestamp":1773010759000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria"],"prefix":"10.1002","volume":"14","author":[{"given":"Elnaz","family":"Asadollahzadeh","sequence":"first","affiliation":[{"name":"Multiple Sclerosis Research Center, Neuroscience Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Multiple Sclerosis Research Center, Neuroscience Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vahid","family":"Shahmaei","sequence":"additional","affiliation":[{"name":"MAHAK Hematology Oncology Research Center (MAHAK\u2010HORC), MAHAK Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad\u2010Sadegh","family":"Johari","sequence":"additional","affiliation":[{"name":"Department of Radiology, Faculty of Medicine Aja University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3337-1460","authenticated-orcid":false,"given":"Mohammad Ali","family":"Sahraian","sequence":"additional","affiliation":[{"name":"Multiple Sclerosis Research Center, Neuroscience Institute Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0112747"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2016.1073"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1737948"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.5935\/0004-2749.20170027"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12987-021-00253-4"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-553X.2007.00907.x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000512719"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.08.025"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2019.12.004"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2025.05.003"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72148","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.72148","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.72148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T06:07:05Z","timestamp":1774505225000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.72148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,25]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/ccr3.72148"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.72148","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,25]]},"assertion":[{"value":"2025-08-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e72148"}}