Papillorenal syndrome is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve. Presentation
Ocular
Ocular disc dysplasia is the most notable ocular defect of the disease. An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. The nerve head typically resembles the morning glory disc anomaly, but has also been described as a coloboma. 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. Despite the similarities with coloboma and morning glory anomaly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity. 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. Some patients have normal or near normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations. The retinal vessels are abnormal or absent, in some cases having small vessels exiting the periphery of the disc. There is a great deal of clinical variability. Kidney
The most common malformation in patients with the syndrome is kidney hypodysplasia, which are small and underdeveloped kidneys, often leading to end-stage renal disease (ESRD).
Since the disease is believed to be caused by Pax2 mutations and is inherited in an autosomal dominant manner, family members may be at risk and relatives should be tested for possible features. About half of those diagnosed with the disease have an affected parent, so genetic counseling is recommended. Prenatal testing is another possibility for prevention or awareness, and this can be done through molecular genetic testing or ultrasounds at later stages of pregnancy. Additionally, preimplantation genetic diagnosis (PGD) should be considered for families where papillorenal syndrome is known to be an issue. References
External links

GeneReview/NCBI/NIH/UW entry on Renal Coloboma Syndrome
Papillorenal syndrome at NIHs Office of Rare Diseases
NCBI Genetic Testing Registry