Familial Exudative Vitreoretinopathy (FEVR)

In the autosomal dominant form several people in a family are affected and family members are often aware that there is condition causing visual impairment in the family. The other two inheritance patterns can skip generations, and one may not be aware that other family members are affected. This is particularly true if the family member is relatively mildly affected (i.e., with Stage 1 FEVR).

FEVR is a retinal vascular disease, which may remain active or recur throughout life. It occurs as a consequence of  a biochemical imbalance between vascular endothelial growth factor and tissue growth factor beta.

FEVR has been treated by laser and surgical therapy in the past. Until recently, no effective drug therapy was available for FEVR.  In the last few years a class of drugs targeting vascular endothelial growth factor, or VEGF, have been used in some eyes with FEVR.  VEGF affects how blood vessels behave.  Anti-VEGF drugs (Macugen initially, and more recently Avastin, Lucentis) have been used to reduce the abnormal “leakiness” of blood vessles in eyes with FEVR.

These drugs were approved by the FDA for use in age-related macular degeneration, but has been used in an off-label fashion in people affected with this very progressive, otherwise uncontrollable, form of familial exudative vitreoretinopathy with what appear to be very good results.

The results using Macugen were presented at the 2005 Pre-American Academy of Ophthalmology Retina Meeting by Dr. Kimberly Drenser, MD, PhD.  For the first time there is a class of pharmacologic agents which seems to selectively encourage reabsorption of subretinal exudate (blood), a component of FEVR for which we had no acceptable treatment in the past.