Glaucoma Genetics: Lessons Learned and the New Frontier

Genetic analyses have led to the identification of 12 genes primarily responsible for early-onset glaucoma and hundreds of genomic loci influencing adult-onset disease risk. Childhood glaucoma genes encode for proteins involved in ocular development and extracellular matrix, while genetic factors influencing adult-onset disease are involved in a number of biological pathways and processes. Genes responsible for glaucoma and genetic factors influencing disease risk can be used for genetic testing, allowing for informed genetic counseling for early-onset glaucoma cases and families and risk stratification using PRS for adult-onset disease. Genetic testing for glaucoma can identify people with high disease risk and allow for surveillance and timely treatment that can prevent permanent loss of vision. Current studies suggest that glaucoma genetic architecture is complex, especially in adult-onset disease, involving multiple genetic and/or environmental risk factors. Priorities for future work include the discovery of novel genes and genetic causality, as well as functional studies to define molecular mechanisms underlying disease pathophysiology. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.