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The mission of this site is to provide an information source
for patients, families, doctors and researchers interested in
Familial Exudative Vitreoretinopathy as well as to provide
support for patients and families through education,
outreach and the knowledge that they are not alone.
Familial Exudative Vitreoretinopathy is a rare eye disease affecting the retina at the back of the eye, and the vitreous, the clear fluid inside the eye. It is a progressive genetic disease running in the family. In most cases, it progresses during childhood and adolescence, usually stopping in progression by age 20. FEVR varies in intensity. Three studies have shown that 85% of affected individuals can be asymptomatic, that is showing no symptoms. Genetically it has been found to occur in three dominant forms, an x-linked form and an unknown number of recessive forms. In one recessive form it also causes low bone mass. In its dominant form it can clearly be seen in many generations. A test for one of the dominant genes is being developed. The test for the x-linked form is available today. Today 3 dominant genes are known to cause dominant FEVR and there still may be more genes that may cause dominant FEVR or react with the dominant, recessive or x-linked forms and cause different outcomes in patients. All of the dominant genes seem to be located near each other on the 11th chromosome. In its x-linked form it occurs only in the males of the family and most of the time is a mutation of the Norri Disease. Many times this form is caused by a mutation in the Norrie gene but there may be other genes causing this form too. A test is available to test for the Norrie Disease mutation which causes most X-linked forms of the disease. In its most rarest form, recessive, it can occur with no family history. We are currently looking for people with ALL forms of FEVR. One paper shows that the recessive form of FEVR can be accompanied with low bone density causing a rare disease called osteoporosispseudoglioma syndrome (OPPG) and thus cause osteoporosis. Today, studies are now ongoing and more are in the progress of being reviewed and developed. (see you can help page If you are interested in joining the fight for a cure e-mail me at young1@fevr.net for more information.
In its recessive form FEVR can be misdiagnosed as other non-genetic eye diseases such as Persistent Hyperplastic Primary Vitreous (PHPV) due to the lack of family history but unlike PHPV, FEVR may continue to change the retina with age. Many of the features of FEVR also resemble Retinopathy of Prematurity (ROP). A more harmful recessive disease, osteoporosispseudoglioma syndrome (OPPG), which has in the last few years been found to cause FEVR like blindness and osteoporosis and is located next to the dominant FEVR genes is In humans, See the paper Cell, Vol. 107, 513–523, November 16, 2001, they reported that LRP5 gene affects bone mass accrual during growth and cause the recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). If you think that your family has the recessive form of FEVR you might want your child to get a bone density scan. For potential recessive families in clinical studies they will test for this disease but I would recommend getting a bone density scan anyway. Since the recessive gene has not been found, it may talke a long time for the clinical studies to find a recessive gene. They can not tell you whether you have the recessive gene right now and it may take years until they do. The scan is like an x-ray. You simply lay down and a box moves over you . That's it.
FEVR is congenital (present at birth) and bilateral (affect both eyes) although not necessarily with the same intensity. FEVR may affect one eye more than the other, may affect one child more than another and in some cases may not affect sight at all or only slightly. It's outcome for each person is thus unknown. Careful watching by a retina specialist is important. Many FEVR patients also are born with retina folds in one or both eyes which cause blindness in that area of the vision. In these cases the retina does not form correctly in the womb. This condition, when present at birth, can not be corrected. As FEVR progresses bleeding may occur from extraneous blood vessel growth possibly trying to counteract the lack of full growth in the outer retina. This is not good and needs to be treated. A painless laser (laser photocoagulatio) can be used to treat this extra blood vessel growth. Dragging of the retina due to retinal changes may cause the retina to detach from the back of the eye (tractional detachment) and/or retina tarring. In FEVR often the retina is pulled toward the front of the eye or you could say the outer edges of the retina. It is as if one picked up a corner of a rug and pulled it toward himself. Unfortunately the retina is as thin as an onion skin and can thus easily rip. In severe cases membranes my grow into the vitreous. This can happen rapidly so again careful watching by a retinal specialist is warranted.
With diligent and at times aggressive treatment, FEVR does not have to lead to blindness. Normal to impaired sight is common in at least one eye.
A good bulletin board where doctors answer questions is at The Public Forum. sponsored by American Association for Pediatric Ophthalmology and Strabismus (AAIPOS). I can't guarantee all the answers are correct but some helpful answers can be found. You can search the database for previously answered questions. Search for "FEVR" or "Familial Exudative Vitreoretinopathy"
Find more information about FEVR at American FEVR Research Consortium
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