Aniridia Clinical Trial
Official title:
Phenotype-Genotype Correlation in Aniridia
Verified date | October 3, 2008 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
This study will examine specific gene changes in patients with aniridia, a disease in which
the iris (colored part of the eye) is absent or partially absent, and will correlate the
changes with clinical manifestations of the disease. In aniridia, the eye often appears to
have no color, but only a larger than normal pupil. Patients may have impaired vision and
cataracts, glaucoma, nystagmus (rapid, involuntary eye movements), photophobia (light
sensitivity), displaced lens, underdeveloped retina, and thickened cornea. This study will
focus particularly on corneal changes.
Patients 4 years old and older with aniridia may be eligible for this study. Candidates are
screened with a family history and complete eye examination, including the following:
- Visual acuity testing using a vision chart.
- Eye pressure measurement.
- Fundus photography to examine the back of the eye: The pupils are dilated and special
photographs of the inside of the eye are taken to evaluate the retina and measure
changes that may occur over time. The camera flashes a bright light into the eye for
each picture.
- Slit lamp examination: Evaluation of the front part of the eye with a special microscope
called a slit lamp biomicroscope.
- Corneal thickness measurement.
Participants have blood drawn for genetic testing related to aniridia. Relevant medical
information, including disease severity and complications, is obtained over time. Family
members may also be requested to provide blood samples for genetic testing.
Status | Completed |
Enrollment | 100 |
Est. completion date | October 3, 2008 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | All |
Age group | 4 Years and older |
Eligibility | - Patients that meet diagnostic criteria for aniridia will be recruited from the NEI and Collaborating clinics. While diagnosis of aniridia is not expected to create significant difficulty, every attempt will be made to document the clinical status of each family member included in the study, and to document the clinical syndrome in at least one affected individual by slit lamp photography. A total of 100 subjects will be recruited for this study. There are no specific exclusion criteria other than young age (less than 4 years old) which may pose difficulty in obtaining blood. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
United States | University of Chicago | Chicago | Illinois |
United States | University of Cincinnati | Cincinnati | Ohio |
Lead Sponsor | Collaborator |
---|---|
National Eye Institute (NEI) |
United States,
Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977 May;83(5):718-24. — View Citation
Mintz-Hittner HA, Ferrell RE, Lyons LA, Kretzer FL. Criteria to detect minimal expressivity within families with autosomal dominant aniridia. Am J Ophthalmol. 1992 Dec 15;114(6):700-7. — View Citation
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984 May-Jun;28(6):621-42. — View Citation
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