Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts
NCT00056771 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 3432
Last updated 2018-04-05
Summary
This study will explore the clinical and hereditary (genetic) features of inherited cataracts. A cataract is a clouding of the eye lens, which focuses light on the back of the eye. When the lens becomes cloudy and does not let light through, vision is impaired. Cataracts may be associated with vision problems alone, or with other problems, such as changes in facial appearance or skin problems. A better understanding of these genetic conditions may help in the development of better diagnostic tests.
Patients with inherited cataracts and their family members may be eligible for this study. Participants will be drawn from patients enrolled in other studies of inherited cataracts at the NEI and collaborating clinics.
Participants will undergo the following tests and procedures:
* Medical and surgical history;
* Verification of diagnosis;
* Construction of a family tree regarding familial vision problems;
* Complete eye examination, including dilation of the pupils and photography of the lens, tests of color vision and field of vision, and of the ability to see in the dark;
* Blood sample collection (20 ml, or 4 teaspoons) for genetic studies of hereditary cataracts.
Conditions
- Cataract
Sponsors & Collaborators
-
National Eye Institute (NEI)
lead NIH
Principal Investigators
-
James F Hejtmancik, M.D. · National Eye Institute (NEI)
Eligibility
- Min Age
- 4 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2003-03-18
- Completion
- 2016-05-25
Countries
- United States
- China
- India
- Italy
- Pakistan
Study Locations
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