Hereditary glaucoma: clinical and genetic characteristics

The review is devoted to the genetic nature of congenital glaucoma (CG) and presents clinical forms hereditary single nucleotide polymorphisms identified by genome-wide association studies (GWAS). Glaucoma a genetically heterogeneous disease, patients with same diagnosis often have different molecular causes. role mutations in CYP1B1 gene has been proven pathogenesis hydrophthalmos; MYOC — juvenile open-angle glaucoma; PAX6 aniridia; PITX2, FOXC1 genes Axenfeld-Rieger anomaly/syndrome. It established that 4–43% family history mutation MYOC, OPTN or TBK1 genes. Genetic are first steps developing new generation personalized treatments. article describes key features various possible course its therapy. However, therapy requires further study both long-term effects efficacy. Molecular allows for counseling members consideration risks.