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Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases


Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases




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.

Study Status: Recruiting


Condition Intervention Phase
Corneal Dystrophies, Hereditary
Corneal Disease
n/a N/A

Verified by National Eye Institute (NEI) July, 2013

Sponsored by: National Eye Institute (NEI)
Information provided by: National Institutes of Health Clinical Center (CC) identifier: NCT00357435

Study Type: Interventional

Study Design: N/A

Cleveland Clinic
Cleveland, Ohio
United States

James F Hejtmancik, M.D.., Principal Investigator

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