Protocol Number: 04-EI-0008

Title:

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

Number:

04-EI-0008

Summary:

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.

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Individuals or family members of individuals with corneal dystrophies and related corneal diseases.

Adults must be capable of providing their own consent.

All subjects must be able to cooperate with study examination and phlebotomy.

Older than 4 years of age.

EXCLUSION CRITERIA:

Diseases, infections, or trauma that mimic corneal diseases.

Children requiring sedation for study procedures

Special Instructions:

Currently Not Provided

Keywords:

Cornea

Genetics

Dystrophy

Gene

Mapping

Molecular

Bietti

Fleck

Positional Cloning

Linkage

Recruitment Keyword(s):

None

Condition(s):

Corneal Dystrophies, Hereditary

Corneal Disease

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Eye Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Klintworth GK, et al. Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. Mol Vis. 1998 Dec 31;4:31.

Lee J, et al. Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab.1998 Oct;65(2):143-54.

Jiao X, et al. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000 Nov;67(5):1309-13. Epub 2000 Sep 21.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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