Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina. The disease process can lead to retinal folds, tears, and detachments.
Treatment
Currently laser surgery can be performed in order to prevent further retinal detachment. Future treatment is possible with genetically tailored medications, and ultimately with genetic modifications.
Causes
Genetic types include:
Type | OMIM | Gene | Locus |
---|---|---|---|
EVR1 | 133780 | FZD4 | 11q14-q21 |
EVR2 | 305390 | NDP | Xp11.4 |
EVR3 | 605750 | ? (exact gene unknown) | 11p13-p12 |
EVR4 | 601813 | LRP5 | 11q13.4 |
EVR5 | 613310 | TSPAN12 | 7q31 |
EVR6 | 616468 | ZNF408 | 11p11.2 |
EVR7 | 617572 | CTNNB1 | 3p22.1 |