Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) (pronounced "fever") is a genetic eye disorder affecting the growth and development of blood vessels in the retina of the eye.[1] 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, and can easily be confused with retinopathy of prematurity in premature infants. The disease process often leads to retinal folds, tears, and detachments. Although FEVR is a genetic condition, it does not affect other parts of the body.
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| EVR1 | 133780 | FZD4 | 11q14-q21 |
| EVR2 | 305390 | NDP | Xp11.4 |
| EVR3 | 605750 | ? | 11p13-p12 |
| EVR4 | 601813 | LRP5 | 11q13.4 |
| EVR5 | 613310 | TSPAN12 | 7q31 |
References
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External links
- Familial Exudative Vitreoretinopathy Eye Disease Home Page
- GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
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