Topography of eye diseases in pathological changes in the gene PAX6

Abstract

Studies of hereditary pathology of the eye against the background of broad genetic heterogeneity and pronounced clinical polymorphism are difficult because of the complexity of determining the focus of primary damage - often diseases of the anterior segment of the eye are triggers for damage to the posterior segment (retina, choroid, optic nerve). The presented report describes the structure of the spectrum of PAX6-associated pathology of the eye in a clinically polymorphic sample, taking into account the level of damage to the eyeball.