{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T20:03:49Z","timestamp":1784318629935,"version":"3.55.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,17]]},"DOI":"10.7759\/cureus.112877","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T19:36:24Z","timestamp":1784316984000},"source":"Crossref","is-referenced-by-count":0,"title":["Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report"],"prefix":"10.7759","author":[{"given":"Boutaina","family":"Bousellam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hibat Allah","family":"Eddaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniss","family":"Regragui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabiha","family":"Benchekroun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Belmekki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/79095","article-title":"Identification of the gene causing mucolipidosis type IV","volume":"26","author":"Bargal R","year":"2000","unstructured":"Bargal R, Avidan N, Ben-Asher E, et al.. Identification of the gene causing mucolipidosis type IV. Nat Genet. 2000, 26:118-23. 10.1038\/79095","journal-title":"Nat Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-34496","article-title":"Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin","volume":"33","author":"Bargal R","year":"2002","unstructured":"Bargal R, Goebel HH, Latta E, Bach G. Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics. 2002, 33:199-202. 10.1055\/s-2002-34496","journal-title":"Neuropediatrics"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3195","article-title":"Mucolipidosis type IV","volume":"73","author":"Bach G","year":"2001","unstructured":"Bach G. Mucolipidosis type IV. Mol Genet Metab. 2001, 73:197-203. 10.1006\/mgme.2001.3195","journal-title":"Mol Genet Metab"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-017-2401-6","article-title":"Mucolipidosis type IV due to novel MCOLN1 mutation","volume":"84","author":"Gowda VK","year":"2017","unstructured":"Gowda VK, Srinivasan VM, Bhat M, Benakappa A. Mucolipidosis type IV due to novel MCOLN1 mutation. Indian J Pediatr. 2017, 84:871-2. 10.1007\/s12098-017-2401-6","journal-title":"Indian J Pediatr"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3109\/13816819209105168","article-title":"Mucolipidosis type IV presentation of a mild variant","volume":"13","author":"Casteels I","year":"1992","unstructured":"Casteels I, Taylor DS, Lake BD, Spalton DJ, Bach G. Mucolipidosis type IV presentation of a mild variant. Ophthalmic Paediatr Genet. 1992, 13:205-10. 10.3109\/13816819209105168","journal-title":"Ophthalmic Paediatr Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-200107000-00020","article-title":"Mucolipidosis IV in an African American patient with new findings on electron microscopy","volume":"20","author":"Noffke AS","year":"2001","unstructured":"Noffke AS, Feder RS, Greenwald MJ, O'Grady RB, Roth SI. Mucolipidosis IV in an African American patient with new findings on electron microscopy. Cornea. 2001, 20:536-9. 10.1097\/00003226-200107000-00020","journal-title":"Cornea"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(01)00968-x","article-title":"Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV","volume":"109","author":"Smith JA","year":"2002","unstructured":"Smith JA, Chan CC, Goldin E, Schiffmann R. Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. Ophthalmology. 2002, 109:588-94. 10.1016\/s0161-6420(01)00968-x","journal-title":"Ophthalmology"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020248","article-title":"Mucolipidosis type IV in Omani families with a novel MCOLN1 mutation: search for evidence of founder effect","volume":"13","author":"Al-Alawi B","year":"2022","unstructured":"Al-Alawi B, Harikrishna B, Al-Thihli K, et al.. Mucolipidosis type IV in Omani families with a novel MCOLN1 mutation: search for evidence of founder effect. Genes (Basel). 2022, 13:248. 10.3390\/genes13020248","journal-title":"Genes (Basel)"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21124564","article-title":"Neuropathophysiology, genetic profile, and clinical manifestation of mucolipidosis IV-a review and case series","volume":"21","author":"Jezela-Stanek A","year":"2020","unstructured":"Jezela-Stanek A, Ciara E, Stepien KM. Neuropathophysiology, genetic profile, and clinical manifestation of mucolipidosis IV-a review and case series. Int J Mol Sci. 2020, 21:4564. 10.3390\/ijms21124564","journal-title":"Int J Mol Sci"},{"key":"ref10","unstructured":"NM_020533.3(MCOLN1).c.169C&gt;T (p.Arg57Ter). (2026). Accessed: May 30, 2026: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/1072635\/."}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/464301-bilateral-corneal-dystrophy-revealing-mucolipidosis-type-iv-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T19:36:25Z","timestamp":1784316985000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/464301-bilateral-corneal-dystrophy-revealing-mucolipidosis-type-iv-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":10,"URL":"https:\/\/doi.org\/10.7759\/cureus.112877","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,17]]}}}