{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T21:31:50Z","timestamp":1770327110539,"version":"3.49.0"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8]]},"abstract":"\n Purpose:<\/jats:title>\n To report a case of bilateral and repetitive corneal perforations after corneal cross-linking (CXL) for keratoconus in a woman harboring potentially pathogenic variants in the ZNF469<\/jats:italic> gene and to characterize the keratoconus phenotype in this woman and her daughter who shared the same ZNF469<\/jats:italic> mutations.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Clinical characterization of the proband and her daughter followed by sequencing of the genes associated with brittle cornea syndrome, ZNF469<\/jats:italic> and PRDM5<\/jats:italic>, in both individuals.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n An Ashkenazi Jewish woman in her sixth decade presented with diffuse corneal thinning and progressive steepening consistent with keratoconus. After CXL, epithelium-off in the first eye and epithelium-on in the second, she developed spontaneous corneal perforations in each eye. Her daughter in her fourth decade demonstrated a similar pattern of diffuse corneal thinning and progressive corneal steepening but did not undergo CXL and did not develop corneal perforation. Screening of the ZNF469<\/jats:italic> and PRDM5<\/jats:italic> genes revealed 3 missense ZNF469<\/jats:italic> variants (c.2035G>A, c.10244G>C, and c.11119A>G) in cis<\/jats:italic> arrangement on 1 allele of ZNF469<\/jats:italic> in both proband and her daughter. Although the 3 variants share low (<0.01) global minor allele frequencies, each has significantly higher minor allele frequencies (0.01\u20130.03) in the Ashkenazi Jewish population, leading to uncertainty regarding a pathogenic role for the identified variants.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n CXL may be associated with the development of corneal perforation in particular at-risk individuals with keratoconus. Identifying clinical and genetic risk factors, including screening of ZNF469<\/jats:italic> and PRDM5<\/jats:italic>, may be useful in the prevention of significant complications after CXL.<\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/ico.0000000000002002","type":"journal-article","created":{"date-parts":[[2019,5,17]],"date-time":"2019-05-17T22:58:25Z","timestamp":1558133905000},"page":"1033-1039","source":"Crossref","is-referenced-by-count":18,"title":["Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations"],"prefix":"10.1097","volume":"38","author":[{"given":"Wenlin","family":"Zhang","sequence":"first","affiliation":[{"name":"Stein Eye Institute, UCLA, Los Angeles, CA;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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