Genetic Epidemiology of Primary Congenital Glaucoma in the World. Part II

Abstract

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.