As you may or may not know, Familial Exudative Vitreoretinopathy (FEVR), is a genetic progressive eye disease. That is, it runs in families and is caused by a defective gene (see below for a close up look at one of the known genes).  Today only the symptoms of FEVR can be treated.  In the future it may be possible to find a disease specific cure, either through gene therapy or through another modality, if enough knowledge is gained about the genetics of FEVR.  Understanding the genetics of FEVR can also lead to the development of more genetic tests.  With genetic tests, a family with a history of FEVR can get more efficient counseling about their risk of having children with FEVR. This page shows information about FEVR studies if they are available.  

Currently I do not know of any open studies. 

The National Eye Institute, National Institutes of Health in the United States has recently (July 2009) finished a genetic study.

If you have an open FEVR study please contact me to post here and on the bulletin board at young1@fevr.net .

      All three different forms of inheritance are seen with FEVR.  Autosomal dominant is the most common form of inheritance in FEVR and usually some symptoms and signs of the disease are seen in several generations, although these symptoms can be very mild in some of the affected family members.  Autosomal recessive parents of a person with FEVR are carriers of the gene but do not have symptoms.  The X-linked form of FEVR affects only males in the family.  This form of FEVR is not as common as the Dominant form.  Recently two of the genes causing the dominant form of the disease were identified both in the same chromosome (chromosome 11).  One of these genes is called frizzled 4 gene and the other is called LPR 5.  The location of a third gene that also causes the autosomal dominant form of FEVR is also known but the exact gene has yet to be discovered.  One of these known genes, the LPR5 gene has also been recently identified to cause Autosomal recessive and dominant FEVR (see the bulletin board file for papers on these genes.   A mutation in the Norrie Disease gene has been found to cause some x-linked (males only) form of FEVR.  It is not known whether all x-linked genes are mutations in the Norri gene but it is thought that most are of this form. 


CLINICAL TRIALS NOW ACCEPTING PATIENTS

No clinical trials posted



Will gene therapy that restored sight in dogs born blind prove successful in human clinical trials?


HERE IS ONE FEVR GENE CLOSE UP WHICH IS ON THE 11th CHROMOSOME. DEFECTS ON THIS GENE CAN CAUSE 3 FORMS OF THE DOMINANT FEVR AND ONE FORM OF THE RECESSIVE FEVR.

Crystal structure of the YWTD-EGF domain of the LDLR

Here are some helpful links about genetics in general what recessive, dominant and X-linked inheritance means.

Here are some Medical Papers On each form of FEVR

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