Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case

Abstract

Purpose. Description of a clinical case of a patient with congenital glaucoma and mutations in the CYP1B1 gene, taking into account the analysis of literature data.Material and methods. The following methods were used to examine the patient: standard ophthalmological examination, EPI (VEP for flash, mERG and rERG) and fundus photoregistration, molecular genetics study of the CYP1B1 gene. DNA research was carried out by the method of direct automatic sequencing according to Sanger (the biomaterial was used — venous blood).Results. The article describes a clinical case of congenital glaucoma in a child with an early (from birth) manifestation of glaucoma, a distant stage at the time of examination, at the age of 2 years 6 months. Revealed pronounced clinical, functional and structural changes in the eyes, as well as changes in electrophysiological parameters. The previously described pathogenic variants of the nucleotide sequence 1330C> T (p.Arg444 *) and c.1405C> T (Arg469Trp) in heterozygous states were found in the CYP1B1 gene.Conclusion. The severity of the clinical course of congenital glaucoma in the described clinical case is presumably due to mutations in the CYP1B1 gene. A timely, interdisciplinary approach to diagnosis is key to successful treatment of glaucoma in children.