Genetics of familial exudative vitreoretinopathy and its implications for management

Abstract

Familial exudative vitreoretinopathy (FEVR) is a bilateral hereditary eye disorder affecting full-term children. It is characterized by the premature arrest of vascularization of peripheral retina. The condition has a highly variable expressivity, even between members of the same family. Its clinical presentations are similar to those of retinopathy of prematurity. However, FEVR patients are full-term children who do not have oxygen therapy. FEVR can be inherited as an autosomal dominant, autosomal recessive and X-linked recessive disorder. These three forms of FEVR are now found to be associated with mutations in a group of genes (NDP, FZD4, LRP5 and TSPAN12) that are involved in the specific branch of the Wnt-signaling pathway. The phenotypes associated with all of the above mutant genes show great variations between different individuals within a family and even between two eyes in a patient. The availability of animal models for all four FEVR-causing mutant genes may provide opportunities for further investigations on the basic Wnt-signaling mechanism. This may ultimately lead to better understanding of the abnormal vascularization of the retina and the development of novel therapeutic approaches to prevent or treat this pediatric blinding disorder.

Keywords::

• gene
• mutation
• phenotype
• retina
• vascularization

Acknowledgements

The author apologises to those whose works or original publications could not be cited in this short article. The author is thankful to Michael T Trese of William Beaumont Hospital (Royal Oak, MI, USA) for providing the fundus pictures of familial exudative vitreoretinopathy patients.

Financial & competing interests disclosure

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.

No writing assistance was utilized in the production of this manuscript.