Familial exudative vitreoretinopathy and related retinopathies

@article{Gilmour2015FamilialEV,
  title={Familial exudative vitreoretinopathy and related retinopathies},
  author={David Francis Gilmour},
  journal={Eye},
  year={2015},
  volume={29},
  pages={1-14}
}
Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5… CONTINUE READING

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