Coats Plus Syndrome

Background and History: 

Coats disease is a vascular disease of the retina in the eye that usually occurs sporadically.  It was first described by George Coats, a Scottish ophthalmologist, in 1912.  In a few disorders such as the one described here the retinal lesions are associated with other abnormalities throughout the body in which case it is referred to as Coats Plus Syndrome and can be inherited.

Clinical Correlations: 

Patients with Coats disease may also have brain cysts, calcium deposits in the brain, and even progressive degeneration of the brain.  This can lead to epilepsy, balance difficulties, and a stiff gait.  Speech can be abnormal.  There may be anemia, fragility of the bones with an increased risk of fractures.  The hair may be sparse and the nails are sometimes abnormally formed.

The blood vessel abnormalities can occur outside of the brain and eye and these may bleed spontaneously, especially throughout the digestive tract.


This is an autosomal recessive disorder caused by two mutations in the same gene.  One is inherited from the mother and the other from the father.  Parents with one copy of the mutation each are clinically normal but confer a 25% risk of this disorder occurring in each of their children.

Diagnosis and Prognosis: 

Ophthalmologists, neurologists, pediatricians, and orthopedists are likely to collaborate in the diagnosis and care of patients with this condition.  Individuals must be monitored for spontaneous hemorrhages.  Physical therapy and special education might be appropriate for some patients.  No longevity data are available.

The hemorrhages and deposits in the retina in selected cases might respond to appropriate laser and surgical treatments.  However, blindness remains a risk.

Additional Information
Autosomal recessive