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Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations
| Content Provider | Scilit |
|---|---|
| Author | Zhang, Wenlin Margines, J. Ben Jacobs, Deborah Rabinowitz, Yaron S. Hanser, Evelyn Maryam Chauhan, Tulika Chung, Doug Bykhovskaya, Yelena Gaster, Ronald N. Aldave, Anthony J. |
| Copyright Year | 2019 |
| Description | Journal: Cornea |
| Abstract | Purpose: 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 gene and to characterize the keratoconus phenotype in this woman and her daughter who shared the same ZNF469 mutations. Methods: Clinical characterization of the proband and her daughter followed by sequencing of the genes associated with brittle cornea syndrome, ZNF469 and PRDM5, in both individuals. Results: 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 and PRDM5 genes revealed 3 missense ZNF469 variants (c.2035G>A, c.10244G>C, and c.11119A>G) in cis arrangement on 1 allele of ZNF469 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 (0.01–0.03) in the Ashkenazi Jewish population, leading to uncertainty regarding a pathogenic role for the identified variants. Conclusions: 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 and PRDM5, may be useful in the prevention of significant complications after CXL. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612572/pdf |
| Ending Page | 1039 |
| Page Count | 7 |
| Starting Page | 1033 |
| ISSN | 02773740 |
| e-ISSN | 15364798 |
| DOI | 10.1097/ico.0000000000002002 |
| Journal | Cornea |
| Issue Number | 8 |
| Volume Number | 38 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2019-08-01 |
| Access Restriction | Open |
| Subject Keyword | Keratoconus Corneal Ectasia Collagen Cross-linking Perforation Znf469 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Ophthalmology |
