Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) (/ˈfēvər/, Template:USdict) 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 | ? | 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link)
External links
- FEVR.NET website
- GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
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