Оганезова Жанна Григорьевна — кандидат медицинских наук, доцент, доцент кафедры офтальмологии им. акад. А.П. Нестерова ЛФ; доцент кафедры офтальмогенетики Института ВиДПО
ул. Островитянова, 1, Москва, 117997,
ул. Москворечье, 1, Москва, 115522
Oganezova Zhanna G. — PhD Associate Professor of the Ophthalmology Department, Associate Professor of Department of Ophthalmogenetics
Ostrovityanov str., 1, Moscow, 117437,
Moskvorechye str., 1, Moscow, 115522
Кадышев Виталий Викторович — кандидат медицинских наук, доцент, ведущий научный сотрудник лаборатории генетической эпидемиологии, заведующий кафедрой офтальмогенетики, руководитель научно-клинического центра генетики глазных болезней
ул. Москворечье, 1, Москва, 115522
Kadyshev Vitaliy V. — PhD, senior researcher of the Genetic Epidemiology Laboratory, head of the Department of ophthalmogenetics, head of the Research Clinical Center of Genetics of Eye Diseases
Moskvorechye str., 1, Moscow, 115522
Егоров Евгений Алексеевич — доктор медицинских наук, профессор, заведующий кафедрой офтальмологии им. акад. А.П. Нестерова ЛФ
ул. Островитянова, 1, Москва, 117997
Egorov Evgeniy A. — MD, Professor, head of Department of ophthalmology
Ostrovityanov str., 1, Moscow, 117437
Данная работа является продолжением опубликованного в декабре 2023 года обзора, посвященного генетической эпидемиологии и генотип-фенотипическим корреляциям при первичной врожденной глаукоме (ПВГ) в мире [
This publication continues a review published in December 2023 about the genetic epidemiology and genotype-phenotype correlations in primary congenital glaucoma (PCG) worldwide, and presents data from East and South Asia, Western Europe and Russia. Analysis of the incidence of PCG data in these regions shows that the rates for Western Europe, the European part of Russia and East Asia are comparable and average 1:10,000–18,000 newborns and higher in ethnically mixed groups. On the territory of South Asia, the minimum number of children with PCG was recorded in Nepal, and the maximum in India. The majority of researchers talk about the predominance of bilateral process in 62 to 99 % cases. As a rule, there is a slight predominance of boys among patients with PCG; authors from India and France report approximately the same number of boys and girls, and German scientists have found a higher prevalence of PCG among girls. If we talk about the phenotype of the disease, almost all researchers note a more severe course in subgroups with the presence of CYP1B1 mutations than in patients who do not have a mutation in this gene. As for the genetic causes of PCG, the most common are mutations in the CYP1B1 gene, accounting for up to a third of cases in India, Pakistan, Western Europe and the European part of Russia. In East Asian patients, mutations in the CYP1B1 gene are most likely not the main ones in the pathogenesis of PCG, because are found much less frequently and often only in one allele. Chinese scientists say that it is necessary to pay attention to mutations TEK and ZC2HC1C, VPS13D, PGF.
The authors declare that there are no conflicts of interest present.