Papillorenal syndrome is an autosomal dominant[2] genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.

[4] A coloboma is the failure to close the choroid fissure, which is the opening from the ventral side of the retina in the optic stalk.

[5] Despite the similarities with coloboma and morning glory anomaly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity.

[6] Optic disc dysplasia is noted by an ill-defined inferior excavation, convoluted origin of the superior retinal vessels, excessive number of vessels, infrapapillary pigmentary disturbance, and slight band of retinal elevation adjacent to the disk.

[9] The missense mutations appear to disrupt hydrogen bonds, leading to decreased transactivation of Pax2, but do not seem to effect nuclear localization, steady state mRNA levels, or the ability of Pax2 to bind to its DNA consensus sequence.

Homozygous negative Pax2 mutation is lethal, but heterozygote mutants showed many symptoms of papillorenal syndrome, including optic nerve dysplasia with abnormal vessels emerging from the periphery of the optic cup and small dysplasic kidneys.

[7] Papillorenal syndrome is an autosomal dominant disorder that results from a mutation of one copy of the Pax2 gene, located on chromosome 10q24.3-q25.1.