Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Eye Abnormalities
Preferred term
Familial Exudative Vitreoretinopathies
Type
-
Topical Descriptor
Broader concept
Entry terms
- Familial Exudative Vitreoretinopathy
Scope note
- A group of inherited disorders characterized by incomplete development of the retinal vasculature. Its severity can vary from complete blindness in infancy, to mild or no visual problems, where small areas of vascular defects are observable only by FLUORESCEIN ANGIOGRAPHY. Exudative vitreoretinopathy 1 is associated with mutations in the FZD4 gene.
History note
- 2020(2014)
In other languages
-
Finnish
-
familiaalinen vitreoretinopatia
-
familiaarinen vitreoretinopatia
-
suvuittain esiintyvä verkkokalvon ja lasiaisen sairaus
-
suvuittain esiintyvä vitreoretinopatia
-
suvuittainen vitreoretinopatia
-
Swedish
-
X-bunden familjär exudativ vitreoretinopati
-
XL-FEVR
URI
http://www.yso.fi/onto/mesh/D000080345
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