Retinitis Pigmentosa 2, X-Linked

Background and History: 

Retinitis pigmentosa (RP) consists of a large group of disorders resulting from a progressive loss of the rods and cones in the retina.  These are the cells that respond to light and send signals to the brain that enable us to see.  More than 100 mutant genes have been identified as responsible for these hereditary disorders and there is considerable variation in onset and progression of symptoms.  The disease usually is present as an isolated eye disease but syndromal forms also occur in which there is a similar disease of the retina in association with other disease elsewhere in the body.

Clinical Correlations: 

The first symptoms may appear in males in early childhood with vision loss and difficulty at night.  Although this is primarily a disorder of males, some females also experience visual difficulties but usually not until middle age.  This condition is progressive and males may be legally blind by the age of 30 years.  Color discrimination may be faulty in advanced disease.  Cataracts often occur as well.  There is no systemic disease. 


The X-linked form of RP is caused by a mutation on the X chromosome. Males with the mutation on their single X chromosome will usually have the complete syndrome since they have no normal gene to counterbalance the mutation. They will have no affected sons but their daughters are carrier like their paternal grandmother and have few or no symptoms. Half of the sons of carrier mothers will be affected on average.  A considerable number of individuals with RP have no family history of this disease.

In spite of the fact that this condition is found mostly in males, some carrier females also have symptoms late in life

Diagnosis and Prognosis: 

The disease is usually diagnosed by an ophthalmologist based on the symptoms and the appearance of the retina.  An electrical test called an ERG is often used to confirm the diagnosis.  Lifespan is not impacted.

Low vision aids and mobility training can be of great benefit.  High doses of vitamin A palmitate have been show to slow the progress of the disease but this requires careful monitoring to avoid complications of liver damage.  Other therapies are investigation but these are not yet clinically useful. 

Cataract surgery may be indicated when the lens opacities interfere with vision.

Additional Information
X-linked recessive, father affected
X-linked recessive, carrier mother