Genetic
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. The gene is important in the development of both the eye and the kidney. Autosomal dominant inheritance indicates that the gene responsible for the disorder is located on an autosome (chromosome 10 is an autosome), and only one defective copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Diagnosis
Clinical findings in the kidney
Hypoplastic kidneys: Characterized by hypoplasia or hyperechogenicity. This typically occurs bilaterally, but there are also exceptions in which one kidney may be notably smaller while the other kidney is normal sized. Hypodysplasia (RHD): Characterized histologically by reduced number of nephrons, smaller kidney size, or disorganized tissue. Multicystic Dysplastic Kidney: Characterized histologically, displaying cysts or dysplasia. Shows disorganization of kidneys, and occurs in about 10% of patients with papillorenal syndrome. Oligomeganephronia: Fewer than normal glomeruli, with a notable size increase. Chronic kidney disease and end-stage kidney disease (ESKD)
Vesicoureteral reflux

Clinical findings in the eye
Dysplasia of the optic nerve (most common)
The severity varies, but the most severe form results in an enlarged disc where vessels exit from the periphery instead of the center. Redundant fibroglial tissue also is seen in severe cases. Milder forms of dysplasia exhibit missing portions of the optic disc located in the optic nerve pit.
The least severe form of papillorenal disease shown in the eye is the exiting of blood vessels from the periphery that do not disturb the shape of the eye. Other eye malformations include scleral staphyloma, which is the bulging of the eye wall. There can also be retinal thinning and myopia. Additionally, there can be an optic nerve cyst, which is dilation of the optic nerve posterior to the globe; which most likely results from incomplete regression of the primordial optic stalk and the filling of this area with fluid. Retinal coloboma is also common, which is characterized by the absence of retinal tissue in the nasal ventral portion of the retina. However, this is an extremely rare finding. Molecular genetic testing
Sequence analysis shows that Pax2 is the only known gene associated with the disease. Mutations in Pax2 have been identified in half of renal coloboma syndrome victims. Treatment
Management of the disease should be focused on preventing end-stage kidney disease (ESKD) and/or vision loss. The treatment of hypertension may also preserve renal function. Renal replacement therapy is recommended, and vision experts may provide assistance to adapt to continued vision loss. Kidney transplant is also an option. Treatment plans seem to be limited, as there is a large focus on the prevention of papillorenal syndrome and its implications. People with congenital optic nerve abnormalities should seek ophthalmologists regularly and use protective lenses. If abnormalities are present, a follow up with a nephrologist should be achieved to monitor renal function and blood pressure.