Research on FEVR

Familial Exudative Vitreoretinopathy, is a genetic disease usually observed in otherwise healthy children, with symptoms similar to those in retrolental fibroplasia. Symptoms include slowly progressive ocular changes with posterior vitreous detachment, traction on the retina in all quadrants, snowflake opacities in the vitreous body, heterotopia of the macula with temporal traction, subretinal and intraretinal exudates occurring at the periphery, and localized retinal detachment. Disease diagnoses usually occurs between the ages of 18 months and 18 years. The patient frequently is asymptomatic; however, vision in advanced cases may be greatly reduced.

Autosomal dominant (AD) is the most common form of inheritance. The frizzled-4 gene was recently discovered in 11q chromosome as one of the genes that cause AD FEVR. Another locus for AD disease is in 11p, the gene is still unknown. It is quite possible that few other unknown yet genes might cause AD FEVR. The second most common form of tranmsmission is x-linked. Patients with the x-linked form have quite often mutations in the Norrie disease gene. It is quite possible also that this type of FEVR could also be caused by other genes as well. A third type of inheritance is autosomal recessive, it is the least common and genes are still unknown.

Treatment for FEVR may involve laser photocoagulation or cryoretinopexy for thermal necrosis of the abnormal vessels. In cases of retinal detachment, scleral buckle and vitrectomy procedures are employed.

The disease was first reported by V. G. Criswick, C. L. Schepens "Familial exudative vitreoretinopathy: a report of two cases" in American Journal of Ophthalmology, Chicago, 1969, 68: 578-594.

In 1998 Crecchin, Giuseppe de et. al. in "Autosomal recessive familial exudative vitreoretinopathy, evidence for genetic heterogeneity" listed the breakdown of reported cases in the literature as: