Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case
https://doi.org/10.21516/2072-0076-2022-15-1-105-108
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.
Supporting agencies: Molecular genetics research was carried out with financial support of Russian Science Foundation (project No. 17-15-01051) grant and state task of the Ministry of education and science of Russia.
About the Authors
L. A. Katargina
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Ludmila A. Katargina - Dr. of Med. Sci., professor, deputy director, head of the department of children’s eye pathology
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062
V. V. Kadyshev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Vitaly V. Kadyshev - Cand. of Med. Sci., head of research and clinical center of genetics of eye diseases, head of chair of ophthalmogenetics of Institute of higher and additional professional education, senior researcher of genetic epidemiology laboratory, geneticist, ophthalmologist
Moskvorechie str., 1, Moscow, 115522
A. A. Sorokin
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Aleksandr A. Sorokin - PhD student, department of children’s eye pathology
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062
A. V. Pleskova
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Alla V. Pleskova - Dr. of Med. Sci., senior researcher of the department of children’s eye pathology
14/19, Sadovaya Chernogryazskaya St., Moscow, 105062
R. A. Zinchenko
Research Centre for Medical Genetics; N.A. Semashko National Research Institute of Public Health
Russian Federation
Russian Federation
Rena A. Zinchenko - Dr. of Med. Sci., professor, deputy director1, head of the aboratory of genetic epidemiology
Moskvorechie str., 1, Moscow, 115522
12-1, Vorontsovo Pole str., Moscow, 105064
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Review
For citations:
Katargina L.A., Kadyshev V.V., Sorokin A.A., Pleskova A.V., Zinchenko R.A. Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case. Russian Ophthalmological Journal. 2022;15(1):105-108. (In Russ.) https://doi.org/10.21516/2072-0076-2022-15-1-105-108
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