Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
N A Datson, E Semina, A A van Staalduinen...
https://pubmed.ncbi.nlm.nih.gov/8940275Completed
Led by National Eye Institute (NEI) · Updated on 2008-03-04
100
Participants Needed
1
Research Sites
N/A
Total Duration
This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These disorders can cause vision loss, and the increased eye pressure can lead to glaucoma, a condition that may also cause loss of eyesight. Patients with eye anterior chamber eye disease, such as Axenfeld's syndrome, Rieger's anomaly, Peter's anomaly, iridocorneal endothelial syndrome, megalocornea, ocular hypertension, and others, are eligible for this study. Participants will have a medical examination, family history, and comprehensive eye examination. Tests and procedures may include photographs of the cornea, iris, and the structure through which fluid that normally circulates behind the cornea drains out of the eye. Some patients may undergo indentation tonography to measure how easily this fluid drains. In this procedure, the patient lies on an examination table and both eyes are numbed with eye drops. A small instrument (tonometer) is placed on the surface of one eye, and with the other eye, the patient looks at an overhead light. Other tests may include photographs of the back of the eye and ultrasound imaging of the structures of the eye. A blood sample may be drawn to study the genetic disorder responsible for the disease. Patients will have follow-up examinations every 6 months for the duration of the study. Medical or surgical therapy will be recommended, as appropriate, for patients who develop elevated eye pressure or vision loss.
CONDITIONS
Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens
You may qualify if you...
The eye conditions to be studied include Axenfeld's syndrome, Rieger's anomaly, Peter's anomaly, (all with or without glaucoma), Iridocorneal Endothelial syndrome, Aniridia, Pigment Dispersion syndrome, Megalocornea and other conditions with clinical abnormalities of the anterior chamber.
Patients will not be included in the study if they do not fit the morphologic characteristics of the disease in question or if the patient's general medical condition or other related factors make it impossible for him or her to continue participation in the study.
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
Total: 1 location
1
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
Status Unknown
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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N A Datson, E Semina, A A van Staalduinen...
https://pubmed.ncbi.nlm.nih.gov/8940275E V Semina, N A Datson, N J Leysens...
https://pubmed.ncbi.nlm.nih.gov/8940274E V Semina, R Reiter, N J Leysens...
https://pubmed.ncbi.nlm.nih.gov/8944018