Familial Exudative Vitreoretinopathy (FEVR)

Familial exudative vitreoretinopathy or FEVR is an inherited retinal disease that has varying degrees of severity. It is categorized as having five stages. Stage 1 often results in no symptoms or visual change for the patient and Stage 5 can result in a blind eye. The inheritance patterns of FEVR range from autosomal dominant to autosomal recessive and an X-linked inheritance pattern.

The autosomal dominant form suggests that several people in a family are affected and most family members are aware that there is a visual problem in the family. The other two inheritance patterns are those that can skip generations and the patient may not be aware that other family members are affected. This is particularly true if the family member has Stage 1 FEVR.

FEVR is a disease that has been treated by laser and surgical therapy in the past. It is a life-long vascularly active retinal vascular disease that is an expression of a biochemical imbalance between vascular endothelial growth factor and tissue growth factor beta. Until recently, no medical therapy was considered for FEVR, but in the last few years five eyes have been treated with an anti-VEGF drug, Macugen.

This drug was approved by the FDA for use in age-related macular degeneration, but has been used in an off-label fashion in people affected with very progressive, otherwise uncontrollable, familial exudative vitreoretinopathy with what appear to be very good results. These results were presented at the 2005 Pre-American Academy of Ophthalmology Retina Meeting by Dr. Kimberly Drenser, MD, PhD.

The results show for the first time an agent that seems to selectively help reabsorption of subretinal exudate (blood) for which we had no acceptable treatment in the past. Certainly a larger number of eyes will require study before this is an accepted treatment, but it appears we may have pharmacologic therapy that could be useful in familial exudative vitreoretinopathy.