Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy
Synonyms	FEVR (initialism), Criswick-Schepens syndrome
Pronounce	(initialism)
Field
Symptoms
Complications
Onset
Duration
Types
Causes
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Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
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	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

External links

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

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