Pigmented Paravenous Chorioretinal Atrophy

Background and History: 

This is a rare slowly progressive inherited retinal disease.  The retina is the tissue lining the inside of the eye in which the rods and cones are located.  These cells respond to light and carry the responses to the brain in the first step in seeing.  A large number of diseases cause to damage to these rods and cones which usually results in damaged vision.

Clinical Correlations: 

This condition is likely congenital (at birth or before) in onset but is not always symptomatic.  A child with vision problems at three months of age has been reported but others live to adulthood without vision problems.  The pigmentary changes in the retina are progressive but in spite of this many middle aged adults retain normal or near normal vision.  An unusual number of individuals with this disorder are farsighted and strabismus of the eyes (crossing of the eyes) may be present.  Unlike many other conditions such as retinitis pigmentosa with pigmentary changes, night blindness is not a symptom in this disorder.  However, side vision is often progressively constricted.


This disorder is caused by a change (mutation) in a gene and is transmitted in an autosomal dominant pattern.  Therefore, a parent with this disorder can expect that each of his or her children has a 50% chance of inheriting the same condition.

Diagnosis and Prognosis: 

The diagnosis is most likely made by an ophthalmologist based on examination of the retina.  There is no specific test that is diagnostic.

No systemic disease is present and no specific treatment is available.  However, low vision aids can be helpful in selected individuals.

Additional Information
Autosomal dominant