Genetic testing for corneal dystrophies and other corneal Mendelian diseases

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for corneal dystrophies and other Mendelian corneal diseases (CDs). CDs are mostly inherited in an autosomal dominant manner (autosomal recessive inheritance is rare). The overall prevalence is currently unknown. CDs are caused by mutations in the AGBL1, CHST6, COL8A2, DCN, GSN, KRT12, KRT3, NLRP1, PAX6, PIKFYVE, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, and ZNF469 genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, confocal microscopy and slit-lamp biomicroscopy. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.