Genetic Analysis of Juvenile Open-Angle Glaucoma Sheds Light on Potential Treatments

This study aimed to identify genetic variants in Finnish patients with juvenile open-angle glaucoma (JOAG). The researchers sequenced MYOC and other known monogenic glaucoma genes in 53 individuals from 50 pedigrees. Five probands had probably pathogenic variants in MYOC, and the frequency of MYOC variants was 10%. One patient had a novel loss-of-function variant in the FOXC1 gene, and another patient had a homozygous likely pathogenic variant in the LTBP2 gene. Overall, the genetic variants explained 14% of JOAG in the cohort. The study suggests that the frequency of pathogenic variants in previously known glaucoma-associated genes is low in Finnish patients with JOAG, and it may be possible to identify novel glaucoma genes through this JOAG series in the future.