Peters Anomaly

Background and History: 

This form of eye malformation is named for Albert Peters, a German ophthalmologist who first described it nearly 100 years ago.  It usually occurs in only one eye.  More recently, we have learned that when it occurs in both eyes this condition may be associated with other syndromes.

Clinical Correlations: 

The eye condition known as Peters anomaly consists of incomplete formation of the front part of the eye.  In particular, the iris (the colored part of the eye) may be attached to the cornea (the clear part, or windshield of the eye) and this often leads to swelling of the cornea causing it to look cloudy and, of course, interfering with vision.  There is considerable variation in the amount of eye damage.  In some patients cutting the iris adhesions may be enough to allow some clearing of the corneal clouding.  Sometimes the lens of the eye is attached as well and this can cause a cataract.

In many cases, the underlying defects lead to glaucoma which is the most serious threat to vision and is often difficult to treat.

Genetics: 

Isolated Peters anomaly usually occurs in an autosomal recessive pattern but autosomal dominant patterns have been reported as will.  The recessive disorder may be caused by a mutation in several genes.  The condition is likely the result of a disruption in some common metabolic pathway or pathways.

Diagnosis and Prognosis: 

Your eye doctor can make this diagnosis only after a careful eye examination as various features such as glaucoma can be found in other conditions as well.  The iris adhesions, if removed from the cornea, can lead to some clearing of the cloudiness but in other cases a corneal transplant is required.  If a cataract is present, this can be surgically removed.  The most difficult eye problem to treat is glaucoma and generally a pediatric glaucoma expert is the best specialist for this.

Additional Information
Inheritance/Pedigree: 
Autosomal dominant
Autosomal recessive