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Protocol Number:
05-EI-0104
- Title:
Familial Exudative Vitreoretinopathy Clinical and Molecular Studies
- Number:
05-EI-0104
- Summary:
This study will examine the extent of the vision problem in familial exudative vitreoretinopathy (FEVR) and try to identify the genes responsible for this hereditary eye disorder. Patients with FEVR have incomplete formation of blood vessels in the periphery of the retina (the inner part of the eye that is responsible for vision). As a result, abnormal vessels can form and retinal detachment and vitreous bleeding can occur, causing significant vision loss. Vision loss usually begins in childhood, gradually worsening over time. Some patients eventually become blind.
Patients of all ages with FEVR and their family members may be eligible for this study. Participants undergo the following tests and procedures:
-Family history, especially regarding eye disease. A family tree is drawn.
-Blood draw for genetic testing related to FEVR.
-Eye examination to assess visual acuity (eye chart test) and eye pressure, and to examine pupils, lens, retina and eye movements. The pupils are dilated with drops for this examination.
-Fluorescein angiography to evaluate the eye's blood vessels. A yellow dye is injected into an arm vein and travels to the blood vessels in the eyes. Pictures of the retina are taken using a camera that flashes a blue light into the eye. The pictures show if any dye has leaked from the vessels into the retina, indicating possible blood vessel abnormality.
-Patients affected with FEVR will also undergo DEXA scan to look for osteoporosis. X-rays are used to scan the hip, forearm and spine for bone density measurements.
- Sponsoring Institute:
-
National Eye Institute (NEI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
The patients must carry the clinical diagnosis of familial exudative vitreoretinopathy. Whenever a patient fulfills the above requirement additional family members can be included in the study as participants. Subjects of any ethnic background, gender, age, sexual orientation, or health status will be included.
EXCLUSION CRITERIA:
Prematurity and supplemental oxygen use at bith can cause a clinical picture similar to familial exudative vitreoretinopathy. The existence of either of those factors in the past medical history of a patient will necessitate exclusion from the study. Since fluorescein angiography is crucial for the correct diagnosis of the syndrome, patients with a previous allergic reaction to fluorescein dye will also be excluded. Patients inability or unwillingness to provide a blood sample is an exclusion criterion as well.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Exudation
-
Avascular Retina
-
Retina Fold
- Recruitment Keyword(s):
-
None
- Condition(s):
-
Exudatiaon
-
Avascular Retina
-
Retina Fold
-
Eye Diseases
-
Familial Exudative Vitreoretinopathy
-
FEVR
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Eye Institute
- Contact(s):
-
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793
Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
-
Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969 Oct;68(4):578-94.
-
Gow J, Oliver GL. Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol. 1971 Aug;86(2):150-5. No abstract available.
-
Laqua H. Familial exudative vitreoretinopathy. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1980;213(2):121-33.
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