Генетичні аспекти первинної відкритокутової глаукоми

Abstract

Glaucoma is one of the widespread eye diseases causing visual disturbances and even blindness. Almost 15% of blindness worldwide is due to glaucoma. One of the factors of glaucoma development is heredity. Currently, identification and diagnosis of new glaucoma cases is achieved either by routine screening or examinations prompted by perceived risk. The factors associated with the pathogenesis of glaucoma include high intraocular pressure (IOP), aging, decreased blood flow and genetic factors. Traditional vision screening for disorders like primary open-angle glaucoma (POAG) is time-consuming and costly. POAG is the most common type of glaucoma which has no obvious abnormality in the eye that points to a cause. Although mutations in several genes, including myocilin, optineurin, and CYP1B1 are associated with the disease, these genes account for less than 10% of cases worldwide. The paper reviews genetic studies in POAG. The genetic basis for the development of glaucoma and a variety of its related syndromes is considered. CYP1B1 is a member of a family of cytochrome P450 genes known to encode enzymes that metabolize and detoxify both endogenous and exogenous molecules, although their activity is not limited to detoxification. The human CYP superfamily contains 57 functional genes and 58 pseudogenes. Two specific substrates of CYP1B1 (estradiols and retinoic acid) could contribute to ocular development and specifically to the development of the ocular anterior segment.