{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:58:18Z","timestamp":1760057898995,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T00:00:00Z","timestamp":1741219200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Background: Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by bilateral corneal opacification due to abnormal cholesterol and phospholipid deposition. Mutations in the UBIAD1 gene, identified as causative in 2007, underline the condition, although its exact pathogenesis remains unclear. Case Presentation: A 55-year-old female presented with persistent photophobia, blepharospasm, and corneal discomfort. She also reported joint pain related to rheumatoid arthritis (RA), managed with Ro-Actemra (tocilizumab). The ophthalmological evaluation revealed bilateral corneal stromal deposits resembling snowflakes, with visual acuities of 0.8 (right eye) and 0.7 (left eye). Multimodal imaging confirmed stromal hyperreflective deposits. Based on the clinical findings, SCD was diagnosed, although no genetic testing was performed. Symptomatic management with artificial tears was initiated. Discussion: This case illustrates the diagnostic challenges of SCD, particularly in the absence of corneal crystals, a hallmark feature that is not universally present. Advanced imaging techniques aided diagnosis, and the coexistence of SCD and RA highlights the need for multidisciplinary care. Treatment options remain limited, although emerging therapies targeting oxidative stress and lipid metabolism show promise. Conclusions: This case highlights the importance of integrating ophthalmological and systemic care in SCD management and underscores the need for further research to expand diagnostic and therapeutic strategies for this rare disorder.<\/jats:p>","DOI":"10.3390\/life15030409","type":"journal-article","created":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T06:02:13Z","timestamp":1741240933000},"page":"409","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report of Schnyder Corneal Dystrophy\u2014A Rare Lipid Metabolic Disorder of the Cornea"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9547-9696","authenticated-orcid":false,"given":"Nina","family":"Stoyanova","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3367-1732","authenticated-orcid":false,"given":"Abdulrahman","family":"Imran","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zain Ul","family":"Hassan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1155-117X","authenticated-orcid":false,"given":"Krasimir","family":"Kraev","sequence":"additional","affiliation":[{"name":"Department of Propedeutics of Internal Diseases, Medical Faculty, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yordanka","family":"Basheva-Kraeva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kraeva","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Medical Faculty, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petar","family":"Uchikov","sequence":"additional","affiliation":[{"name":"Department of Special Surgery, Medical Faculty, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Plamena","family":"Novakova","sequence":"additional","affiliation":[{"name":"Department of Allergy, Medical Faculty, Medical University of Sofia, 1000 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veselin","family":"Vasilev","sequence":"additional","affiliation":[{"name":"Department of Physiology, Medical Faculty, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8679-9674","authenticated-orcid":false,"given":"Ivaylo","family":"Minev","sequence":"additional","affiliation":[{"name":"Department of Anaesthesiology, Emergency and Intensive Care Medicine, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-1766","authenticated-orcid":false,"given":"Bozhidar","family":"Hristov","sequence":"additional","affiliation":[{"name":"Second Department of Internal Diseases, Section \u201cGastroenterology\u201d, Medical Faculty, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Desislava","family":"Koleva-Georgieva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petko","family":"Petrov","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Surgery, Faculty of Dental Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luboslav","family":"Dimov","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9943-6872","authenticated-orcid":false,"given":"Svetlan","family":"Dermendzhiev","sequence":"additional","affiliation":[{"name":"Department of Occupational Diseases and Toxicology, Medical Faculty, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8708-1488","authenticated-orcid":false,"given":"Marin","family":"Atanassov","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1097\/ICU.0b013e32832b753e","article-title":"Schnyder corneal dystrophy","volume":"20","author":"Weiss","year":"2009","journal-title":"Curr. 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Ophthalmol."},{"key":"ref_5","first-page":"E171","article-title":"High expression of matrix GLA protein in Schnyder corneal dystrophy patients points to an active role of Vitamin K in corneal health","volume":"99","author":"Sarosiak","year":"2020","journal-title":"Acta Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"6701816","DOI":"10.1155\/2020\/6701816","article-title":"Multimodal imaging features of Schnyder corneal dystrophy","volume":"2020","author":"Ghazal","year":"2020","journal-title":"J. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/bs.pmbts.2015.05.003","article-title":"Molecular pathogenesis of corneal dystrophies","volume":"134","author":"Kim","year":"2015","journal-title":"Prog. Mol. Biol. Transl. 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