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 — juve...

Axenfeld-Rieger Syndrome (ARS) is comprised of a group autosomal dominant disorders that are each characterized by anterior segment abnormalities the eye. Mutations in transcription factors FOXC1 or PITX2 most well-studied genetic manifestations this syndrome.Due to rarity syndrome, ARS-associated neurological have not been well characterized. The purpose systematic review characterize and desc...

OBJECTIVE To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. METHODS We performed a retrospective review of the medical charts and the ocular histopathological material of multiple members of a family. RESULTS Congenital Axenfeld-Rieger anomaly and glauc...