Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye

The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia.

A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied.

The differences in CCT measurements among those affected with diverse disorders and healthy individuals were evaluated. Then we considered the influence of genetic factors on CCT reduction. Disorders were compared based on phenotypes and sequence variants found in patients.

Specific sequence variants in COL8A2, PRDM5 and ZNF469, COL5A1 and ZNF469, and COL5A1 and COL5A2 could probably contribute to a CCT reduction in POAG, BCS, KTCN, and EDS, respectively. Similar sequence variants and phenotypes were identified and assessed in more than one disease.