Papillorenal Syndrome

Background and History: 

This rare and curious disorder primarily involves the eyes and kidneys.  There is a considerable variation in the clinical severity of disease.

Clinical Correlations: 

There is considerable variation in the degree of kidney and eye malformations and the symptoms likewise are inconsistent.  The optic nerve that conducts the nerve impulses to the brain is nearly always malformed and the retinal blood vessels are abnormally formed as well.  The retina is usually thin and does not respond to light normally.  Together these abnormalities may cause severe visual impairment in most individuals but other patients have near normal vision.

The kidneys are usually abnormal as well.  They may be unusually small and as a result do not function well.  In addition, malformations of the tubes from the kidney to the bladder (ureters) allow reflux of urine which may lead to kidney infections and eventual failure.  Some patients have only mild dysfunction of the kidneys but others experience complete shutdown.  High blood pressure is often the result.  Short stature, mild hearing loss, joint laxity and soft skin have also been reported. 


This is an autosomal dominant disorder as the result of a gene change (mutation).  About half of reported cases occur when an affected parent passes the mutation to a child.  However, not all patients have the identified mutation and other non-familial cases seem to result from new mutations.  A parent who has the papillorenal syndrome can expect that half of his/her offspring will also be affected.

Diagnosis and Prognosis: 

The diagnosis requires a collaborative effort by ophthalmologists and pediatricians or urologists.  Infections of the kidney require treatment.  Some patients with complete kidney failure can be treated with a kidney transplant.  Hypertension must be treated.  Patients with residual vision may benefit from low vision aids and vocational counseling.

Additional Information
Autosomal dominant