Table 1.
Details of Genes and Loci for Corneal Endothelial Dystrophies
| Endothelial Dystrophy | Locus/gene | Inheritance | Gene function |
|---|---|---|---|
| CHED | CHED1/OVOL2 | AD | Transcription factor promoting MET |
| CHED2/SLC4A11 | AR | Not known; ion transporter–related | |
| PPCD | PPCD1/OVOL2 | AD | Transcription factor |
| PPCD2/COL8A2* | AD | Component of Descemet membrane | |
| PPCD3/ZEB1 | AD | Transcription factor promoting EMT | |
| PPCD4/GRHL1 | AD | Transcription factor promoting MET | |
| FECD | FECD1/COL8A2 | AD | Component of Descemet membrane |
| FECD2 (13pter-q12)/Not known | AD | Not known | |
| FECD3/TCF4 | AD | Transcription factor | |
| FECD4/SLC4A11 | Not known; ion transporter–related | ||
| FECD5 (5q33-35)/Not known | AD | Not known | |
| FECD6/ZEB1 | Complex | Transcription factor | |
| FECD7 (9p24-22)/not known | Complex | Not known | |
| FECD8/AGBL1 | AD | Glutamate decarboxylase | |
| FECD/DMPK | AD | Protein kinase |
The designations for loci FECD1–8 are as per the OMIM database (Ref. 3-available at https://omim.org/phenotypicSeries/PS136800]. *the status of the COL8A2 gene as the PPCD2 locus is questionable. AD, Autosomal dominant; EMT, Epithelial–mesenchymal transition; MET, Mesenchymal–epithelial transition. Shown above are the phenotypic details of different CEDs including associated features, and structural changes in the cornea as observed on slit lamp, specular microscopy and OCT