Loading...
Please wait, while we are loading the content...
Similar Documents
Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations
| Content Provider | Scilit |
|---|---|
| Author | Cunnusamy, Khrishen Bowman, Charles B. Beebe, Walter Gong, Xin Hogan, R. Nick Mootha, V. Vinod |
| Copyright Year | 2016 |
| Description | Journal: Cornea Purpose: To describe 2 cases of congenital corneal endothelial edema resulting from novel de novo mutations. Methods: Case A patient was a 15-month-old white child and case B patient was a 3-year-old Hispanic child presenting with bilateral cloudy corneas since birth. Clinicopathologic findings are presented. DNA samples were screened for mutations in candidate genes by Sanger sequencing. Results: Slit-lamp examination of case A patient revealed stromal edema and haze. Histology of the keratoplasty button showed stromal thickening with loss of endothelium and thin Descemet membrane. Sanger sequencing established the diagnosis of congenital hereditary endothelial dystrophy by detection of a compound heterozygous mutation in SLC4A11. The proband displayed a novel de novo frameshift mutation in one SLC4A11 allele, p.(Pro817Argfs*32), in conjunction with a maternally inherited missense mutation in SLC4A11, p.(Arg869His). Case B patient similarly presented with stromal edema and stromal haze. Histopathologic analysis revealed a spongy epithelium, focal discontinuities in Bowman layer, stromal thickening with areas of compacted posterior stroma, variable thickness of Descemet membrane, and regional multilayered endothelium. Sanger sequencing found a novel de novo nonsense mutation in the first exon of ZEB1, p.(Cys7*). Conclusions: To the authors' knowledge, we report the earliest clinical presentation of posterior polymorphous corneal dystrophy resulting from a de novo mutation in ZEB1. Additionally, we present a congenital hereditary endothelial dystrophy case with a thin Descemet membrane with a novel compound heterozygous SLC4A11 mutation. In the absence of a family history or consanguinity, de novo mutations may result in congenital corneal endothelial dystrophies. |
| Related Links | http://europepmc.org/articles/pmc4706791?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706791/pdf |
| Ending Page | 285 |
| Page Count | 5 |
| Starting Page | 281 |
| ISSN | 02773740 |
| e-ISSN | 15364798 |
| DOI | 10.1097/ico.0000000000000670 |
| Journal | Cornea |
| Issue Number | 2 |
| Volume Number | 35 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2016-02-01 |
| Access Restriction | Open |
| Subject Keyword | Congenital Hereditary Endothelial Dystrophy Ched Posterior Polymorphous Corneal Dystrophy Ppcd Slc4a11 Zeb1 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Ophthalmology |
