Papillorenal syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at December 1, 2016
StartDiseasesPapillorenal syndrome

Papillorenal syndrome is a very rare condition that affects the kidneys and the eyes. Those who have it sometimes partially lose vision in one or both eyes and they may develop severe kidney problems if the syndrome is not diagnosed early enough. Papillorenal syndrome is a genetic disorder. It is also known as renal coloboma syndrome.


Definition & Facts

Papillorenal syndromeis a condition that causes abnormalities in kidney and eye development. A person afflicted with the syndrome might have small and underdeveloped kidneys, a malformed optic nerve, and a hole in the retina known as a coloboma.

In some cases, people who have papillorenal syndrome develop end-stage renal disease and others go blind. In other instances, patients experience vesicoureteral reflux, where urine travels backwards toward the bladder. Other symptoms include kidney cysts, loose joints, and hearing loss.

In some instances, no actual cause of papillorenal syndrome can be determined; that is, these cases are idiopathic. In other cases, it is caused by genetic mutations. This condition can affect one or both kidneys.

Symptoms & Complaints

People with papillorenal syndrome have small and underdeveloped kidneys. The kidneys are not able to filter liquid and waste from the body in an effective manner. People with the condition sometimes suffer from vision problems due to abnormalities of their optic nerve.

Some patients will report having urine that is foamy and bubbly. This is a sign of excessive amounts of protein in the urine. Others might have edema or the accumulation of fluids in bodily tissues. The patient will be short of breath and their eyes might get puffy and swollen when they lie down for a while. This is due to fluid collecting in the spaces between the cells in the body.

They might experience urethral anomalies which could require surgery. In severe cases, a patient might be producing less urine and suffer from fatigue and nausea, which are signs of kidney failure. If a patient has any indication at all that they might be suffering from kidney failure, they need to contact a doctor immediately.

Some patients experience vision problems, such as the sudden loss of vision in one eye or blurriness. Papillorenal syndrome sometimes causes the eye to look pale, cloudy, or white. Some patients might be unaware that their vision has changed, as the damage can progress very slowly over time. Some patients will become partially color blind. Some patients recover their vision, while others suffer permanent visual impairment. 


Papillorenal syndrome is caused by genetic mutations in the PAX2 gene, though half of all cases of papillorenal syndrome do not have a known cause. The PAX2 gene mutations are inherited via autosomal dominant inheritance pattern.

Diagnosis & Tests

The doctor will want a complete medical history, especially when it comes to a history of diabetes and high blood pressure. They will perform a thorough physical examination and will often do a clinical urine test.

The doctor will ask a lot of questions about the patient's urinary habits, as one of the primary indications of this disease involves changes in urinary habits. Having less urine than usual and a change in the way the urine appears are major indicators of papillorenal syndrome and other kidney ailments. The doctor will also check for bladder infections and might look into polycystic kidney disease.

Because of the appearance of the eyes, this syndrome is sometimes mistaken for glaucoma. It is very important not to misdiagnose papillorenal syndrome, as certain treatments will actually make it worse. The doctor might do a renal ultrasound and blood pressure evaluations. They will check for vesicouretal reflux, a condition in which the urine actually travels the wrong way toward the bladder. The doctor might also test the patient's hearing, as sometimes hearing loss is associated with this syndrome. 

Treatment & Therapy

Treating papillorenal syndrome is complex because there are so many symptoms. Vision problems may be treated or mitigated through medication or surgery. Kidney problems are treated with medication and dietary restrictions. Anyone with papillorenal syndrome needs to be very careful about taxing their kidneys. Alcohol, medication and certain foods and drinks need to be consumed in moderation, if at all. The doctor will be very wary of renal failure, as it can occur in patients of any age. If that happens, the patient may need dialysis.

Prevention & Prophylaxis

In many cases, this syndrome is passed down genetically. If a parent has papillorenal syndrome, there is a 50% chance that their child will inherit it. A prospective parent thus may seek genetic counseling in order to assess the risk that their child will be born with papillorenal syndrome.

This condition very often leads to kidney problems and vision problems so preventative measures should be taken. One should visit an eye doctor regularly and inform the physician that it might be present. Being educated on the symptoms is important, as it is frequently misdiagnosed because it is so rare.

A healthy diet and regular exercise along with routine checkups with a doctor can help prevent complications.