Familial exudative vitreoretinopathy
| Familial exudative vitreoretinopathy | |
|---|---|
| |
| Synonyms | FEVR (initialism), Criswick-Schepens syndrome |
| Pronounce | (initialism) |
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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.[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. The disease process can lead to retinal folds, tears, and detachments.
Causes[edit | edit source]
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 |
References[edit | edit source]
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
|
- GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
- NCBI Genetic Testing Registry
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