A novel <i>PAX2</i> heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report

This case expands the phenotypic spectrum of <i>PAX2</i> related disorder to include anterior segment dysgenesis, axial myopia, peripapillary RPE agenesis, and abnormal infra orbital optic nerve sheaths in the absence of renal hypodysplasia. Recognition of these atypical ocular findings should prompt targeted genetic testing for <i>PAX2</i>, facilitating accurate diagnosis, anticipatory renal surveillance, and informed genetic counselling.