MOLECULAR GENETIC ASPECTS OF PATHOGENESIS OF PRIMARY CONGENITAL GLAUCOMA
Abstract
Primary congenital glaucoma is a rare disease caused by genetically determined abnormalities of the trabecular meshwork and anterior chamber angle, leading to increased intraocular pressure, without other ocular or systemic developmental abnormalities. The study of the genetic cause of the disease is relevant, as it plays an important role in diagnosis, treatment and, in some cases, provides information about the prognosis of the disease during genetic counseling and testing.
The article presents a review of scientific publications devoted to the study of primary congenital glaucoma. A detailed description of the genes associated with the disease is presented, the mechanisms of damage to the structures of the eye in molecular genetic disorders characteristic of this pathology and clinical manifestations of primary congenital glaucoma are considered. The molecular genetic etiopathogenesis of this disease is complex and has not been fully studied yet. CYP1B1 was the first recorded gene causing primary congenital glaucoma, located at the GLC3A locus, however, the proven genetic heterogeneity of the disease led to the identification of causal loci GLC3B, GLC3C, GLC3D, GLC3E. Additional studies are required to prove the alleged association of the genotype and phenotype of congenital glaucoma.
About the Authors
A. Sh. Zagidullina
ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
G. A. Yapryntseva
ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
V. U. Galimova
ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
S. R. Avkhadeeva
ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России
Russian Federation
Russian Federation
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Review
For citations:
Zagidullina A.Sh., Yapryntseva G.A., Galimova V.U., Avkhadeeva S.R. MOLECULAR GENETIC ASPECTS OF PATHOGENESIS OF PRIMARY CONGENITAL GLAUCOMA. Bashkortostan Medical Journal. 2024;19(2):59-64. (In Russ.)
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