Vitreoretinopathy with Epiphyseal Dysplasia

Background and History: 

A number of gene mutations in genes producing collagen, a component of connective tissue, cause combined skeletal and eye problems with many overlapping features.

Clinical Correlations: 

This disorder causes short fingers and early arthritis, primarily in the fingers of the hand which are described as ‘stubby’.  Some patients also have early onset hip disease.  The retina and the vitreous (the gel-like material filling the back of the eye) are abnormal as well and together raise the risk of a retinal detachment.  This may occur as early as the second decade of life, but the risk lasts throughout life.  Stature is normal and no skull or facial abnormalities are seen as they are sometimes in other collagen disorders.


Inheritance is direct from parent to child creating a vertical pattern characteristic of autosomal dominant disease.

Diagnosis and Prognosis: 

Ophthalmologists and orthopedists are important to the diagnosis of this rare autosomal dominant disorder.  Degenerative disease in large joints such as the hips may require surgical treatment.  The hands are usually functional without difficulty.  Retinal detachments require prompt repair to maintain vision.  Early detection is important to the prognosis and since the risk for a detachment is present throughout life, repeated dilated eye examinations are essential.

Additional Information
Autosomal dominant