X-LINKED FEVR A MUTATION OF Norrie Disease & Genetic Testing

Information on the inheritance of FEVR.

Autosomal dominant (AD) is the most common form of inheritance of FEVR. 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 transmission 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.


X-linked FEVR in most cases are caused a mutation in the gene causing Norrie Disease.  A genetic test is available in these cases.  To learn more about Norrie Disease & Genetic Testing click below.

Norrie Disease & Genetic Testing at genetests.org (click) – About Norrie Disease & Genetic Testing by Katherine Sims MD

"Mutations in the NDP gene are associated with a spectrum of retinal findings ranging from Norrie disease (ND) to X-linked familial exudative vitreoretinopathy (FEVR), including some cases of persistent hyperplastic primary vitreous (PHPV), Coats disease, and advanced retinopathy of prematurity (ROP). "  genetests.org

Frequently Asked Questions

1.  Are all cases X-Linked FEVR caused by a mutation of the Norrie Disease?

We don’t know if all X-linked FEVR is actually Norrie. A number of cases diagnosed as such have been shown to carry ND mutations and I don’t know, and don’t believe, that anyone has reported an X-linked case without a Norrie mutation – probably most are Norrie, at least a couple of cases shows X-linked transmission and no Norrie mutation.

Katherine Sims MD
sims@helix.mgh.harvard.edu
 

 


Medical Papers on X-Linked Form of FEVR

PHPV Message Board & Support Group

What is a Genetic Test?

Family with Norrie Disease – Bulitin Board of American Association For Pediatric Ophthalmology and Strabismus

Cloned and/or Mapped Genes Causing Retinal Diseases


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