Background and History: 

This is a recently described uncommon hereditary disorder limited to the eye.  It consists of abnormalities in various ocular structures, some of them leading to blindness. 

Clinical Correlations: 

Glaucoma, retinal disease, and early cataracts are important features.  The eye may be small and the cornea (windshield of the eye) especially so.  This increases the risk of an unusual type of glaucoma called narrow angle or angle closure glaucoma.  Early onset (presenile) of cataracts occurs in some patients.  Vision may be normal but blindness occurs in some eyes, usually as a result of retinal degeneration.

The vitreous (the jelly-like material that fills the posterior part of the eye) is often abnormal.  The retina has abnormal pigmentation upon inspection but the electrophysiologic test called an ERG usually shows that the rods and cones (the cells in the retina that respond to light) are variably dysfunctional causing difficulty in night vision and color perception, especially in older patients.  Side vision is often reduced. The retina may have new blood vessel formation which makes it susceptible to bleeding. 


This disorder is inherited in an autosomal dominant pattern.  Only a single mutant gene is required so that an affected parent may pass the disorder directly to each child with a 50% probability. 

Diagnosis and Prognosis: 

This is an eye disease that can only be diagnosed by an ophthalmologist.  It may be present at birth and requires lifelong monitoring in order to detect and treat glaucoma, cataracts, and retinal disease so that vision can be preserved.  Most patients have normal or near normal vision throughout their lives.  Some patients may benefit from low vision aids.  No abnormalities are found outside the eye. 

Additional Information
Autosomal dominant