Work

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene

Year: 2026

Type: article

Abstract: The term “childhood glaucoma” summarizes a heterogeneous group of diseases characterized by elevated intraocular pressure and associated optic nerve damage. Secondary glaucoma may develop based on non-acquired ocular anomalies, the most common of which are anterior segment dysgeneses. We present a rare case of infantile childhood glaucoma resulting from anterior segment dysgenesis due to a homozygous mutation c.1881delG, p.(Arg627Serfs*6), leading to loss of function in the CPAMD8 gene.

Source: Genes

DOI: 10.3390/genes17040494