Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

Completed

Conditions studied: Corneal Dystrophies, Hereditary, Corneal Disease

In brief

This study will explore the clinical and hereditary (genetic) features of corneal dystrophy and other inherited corneal disease. Corneal dystrophy is clouding of the cornea - the transparent part of the eye covering the iris and pupil that passes light to the back of the eye. When the cornea becomes cloudy, interfering with the passage of light, vision may be impaired or lost. Corneal problems may occur with vision problems alone, or with other problems, such as changes in facial appearance or bone or joint problems. A better understanding of these genetic conditions may help in the development of better diagnostic tests and methods of disease management. Patients with corneal dystrophies and related corneal disease and their family members may be eligible for this study. Participants will be drawn from patients enrolled in other studies of corneal dystrophy 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 cornea, tests of color vision, field of vision, and the ability to see in the dark, and photographs of the eye. * Blood sample collection to identify the genes responsible for corneal disease and ascertain how they cause disease.

Key facts

Study ID

NCT00357435

Run by

National Eye Institute (NEI)

People needed

86

Starts

2003-10-06

Expected to finish

2016-07-21

Last updated by the study team

2019-12-12

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• Diseases, infections, or trauma that mimic corneal diseases.
• Children requiring sedation for study procedures.

Where it is running

• Jules Stein Eye Institute, UCLA — Los Angeles, California, United States
• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
• Cleveland Clinic — Cleveland, Ohio, United States
• University of Texas, Houston — Houston, Texas, United States
• Zhongshan Opthalmic Center — Guangzhou, China
• Seconda Universita degli — Naples, Italy

Full record on ClinicalTrials.gov

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