Genetics of Childhood Glaucoma

In most countries, sporadic open-angle childhood glaucoma is often idiopathic. The most commonly identifiable cause for primary congenital glaucoma is biallelic CYP1B1 pathogenic variants, particularly in certain populations. Because of variable expressivity, affected relatives of a proband with primary congenital glaucoma can develop juvenile or adult-onset glaucoma, even if the proband has a severe newborn disease. Biallelic LTBP2 pathogenic variants typically are associated with a complex anterior segment phenotype that can be mistaken as primary congenital glaucoma—primary megalocornea with zonular weakness and lens-related secondary glaucoma. Heterozygous MYOC pathogenic variants are the most common identifiable cause of juvenile open-angle glaucoma. Anterior segment dysgenesis confers a risk for glaucoma, which can occur in early childhood or years later.