Familial exudative vitreoretinopathy
| Familial exudative vitreoretinopathy | |
|---|---|
| Other names | Criswick-Schepens syndrome |
 | |
| Retina(located at top of diagram) | |
| Specialty | Ophthalmology  |
Familial exudative vitreoretinopathy (FEVR) (/ˈfiːvər/ FEE-vər) 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
Genetic types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| EVR1 | Template:OMIM2 | FZD4 | 11q14-q21 |
| EVR2 | Template:OMIM2 | NDP | Xp11.4 |
| EVR3 | Template:OMIM2 | ? (exact gene unknown) | 11p13-p12 |
| EVR4 | Template:OMIM2 | LRP5 | 11q13.4 |
| EVR5 | Template:OMIM2 | TSPAN12 | 7q31 |
References
- ^ Shastry BS (2010). "Genetic susceptibility to advanced retinopathy of prematurity (ROP)". J. Biomed. Sci. 17: 69. doi:10.1186/1423-0127-17-69. PMC 2933676. PMID 20738858.
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