Table 2.
Genetic mutations involved in keratoconus
| GENE | CHROMOSOME | VARIATIONS | DISEASES |
|---|---|---|---|
| SOD1 (Superoxide Dismutase 1) | 21q22 | 7-base deletion intron-2 | KC |
| ZNF469 (Zinc Finger Protein 469) | 16q42 | Frame shift mutations/Missense mutations | KC Brittle cornea syndrome type 1 |
| PRMD5 (PR/SET Domain 5) | PR domain containing protein 5 | Homozygous mutations linked with ZNF469 | Brittle cornea syndrome type 2 |
| TGFBI (Transforming Growth Factor Beta) | 5q31 encodes big-h3 | c. 1603G4T mutation located in exon12 | Corneal dystrophies KC |
| DOCK9 (Dedicator of cytokinesis 9) | Located in 13q32 along with IPO5 (importin5, OMIM 602008) and STK24 (serine/ threonine kinase 24, OMIM 604984) | Mutations | strong candidate gene for keratoconus |
| MiRI184 (micro RNA) | 13q32 | mutations altering the miRI (184) seed region | KC & congenital anterior polar cataract |
| VSX1 (Visual System Homeobox 1) | 20p11-q11 | Involved in keratocytes-fibroblastic transformation | KC |