Expanded Phenotype of <scp>PAX2</scp> ‐Related Papillorenal Syndrome: A Case Featuring <scp>FSGS</scp> , Atypical Retinopathy, Cerebellar Hypoplasia, and <scp>ADHD</scp>

Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum. We report a 7-year-8-month-old boy born to consanguineous parents, presenting with stage 4 chronic kidney disease (CKD), nephrotic-range proteinuria, visual impairment, and ADHD. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS), and ocular examination showed bilateral peripheral scalloped chorioretinal atrophy without optic nerve colobomas. Genetic testing confirmed a pathogenic heterozygous <i>PAX2</i> frameshift mutation (c.69_70insG; p.Val26fs28*), establishing the diagnosis of PAPRS. This case illustrates an expanded phenotype of <i>PAX2</i>-related PAPRS, including FSGS, atypical retinal degeneration, cerebellar hypoplasia, and ADHD. Recognition of such atypical presentations is vital for early diagnosis and multidisciplinary management, especially in resource-limited settings where classic features may be absent.