Mutations in the PAX6 gene are generally associated with aniridia. We describe a family with Juvenile onset open angle glaucoma (JOAG), where two siblings were detected to have a pathogenic variant in the PAX6 gene in the absence of aniridia. Whole exome sequencing was performed for the family where the proband and her sibling were detected to have JOAG and Juvenile ocular hypertension respectively. None of the other family members had any ocular disease. All previously described gene mutations for glaucoma were looked for in the family. The potential pathogenicity of the identified variants was assessed by determining their frequency in large public exome databases; as well as using the current ACMG guidelines. Except, for PAX6 gene no pathogenic variants were found in any of the known genes for glaucoma. A de novo heterozygous variant at NM_001368894.2: c.1166C>A; p. Pro375Gln in the PAX6 gene was detected in the proband and her affected brother. The variant has been described in aniridia patients before and is known to be likely pathogenic by ACMG guidelines. This report expands the phenotypic spectrum of the PAX6 gene to include Juvenile onset open angle glaucoma.