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familial exudative vitreoretinopathy type 4
Pathology:
- disorder of the retinal vasculature
- abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina
- this may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult
- new vessels are prone to leakage & rupture causing exudates & bleeding, followed by scarring, retinal detachment & blindness
Genetics:
- inheritance can be
a) autosomal dominant (Criswick-Schepens syndrome)
b) autosomal recessive
- associated with defects in LRP5
Clinical manifestations:
- highly variable, even within the same family
- patients with mild forms of the disease are asymptomatic, & their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery
General
familial exudative vitreoretinopathy (FEVR); Criswick-Schepens syndrome
syndrome
Database Correlations
OMIM 601813
References
Uniprot :accession O75197