Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy
Synonyms	FEVR (initialism), Criswick-Schepens syndrome
Pronounce	(initialism)
Field
Symptoms
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Types
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Differential diagnosis
Prevention
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Deaths

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.<ref name="pmid20738858">Shastry BS,

 Genetic susceptibility to advanced retinopathy of prematurity (ROP), 
 J. Biomed. Sci., 
 2010,
 Vol. 17,
 pp. 69,
 DOI: 10.1186/1423-0127-17-69,
 PMID: 20738858,
 PMC: 2933676,</ref>  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
EVR6	Template:OMIM2	ZNF408	11p11.2
EVR7	Template:OMIM2	CTNNB1	3p22.1

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
• NCBI Genetic Testing Registry

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