renal coloboma syndrome

A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.

Signs and symptoms

• Chronic kidney disease
• Reduced visual acuity
• Elevated circulating creatinine concentration
• Optic disc coloboma
• Renal hypoplasia
• Mild proteinuria
• High myopia
• Hypertension
• Stage 5 chronic kidney disease
• Short stature

Also known as: CAKUT with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; papillo-renal syndrome, optic nerve coloboma with renal disease