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Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ) Identifier:
First received: July 26, 2006
Last updated: April 19, 2017
Last verified: July 21, 2016

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.

Corneal Dystrophies, Hereditary
Corneal Disease

Study Type: Observational
Official Title: Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):

Enrollment: 6
Study Start Date: October 6, 2003
Estimated Study Completion Date: July 21, 2016
Detailed Description:

Objective: This project, Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases will study the inheritance of corneal dystrophy and other inherited corneal diseases, both Mendelian and complex in order to identify the genes that, when mutated, cause corneal disease and the pathophysiology through which they act.

Study Population: Families of many nationalities and ethnic backgrounds. We will study a maximum or 2,000 patients and family members.

Design: The study consists of ascertaining individuals, and especially families with multiple individuals, affected by corneal dystrophy and other inherited corneal diseases. These patients and their families will undergo detailed ophthalmological examinations to characterize their corneal disease and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, physical mapping, and mutational screening will be carried out to identify the specific the gene and the mutations in it that are associated with corneal disease in this family. If necessary, the gene product will be characterized biochemically. All associate investigators will carry out patient ascertainment, diagnosis, and sample referral, and in some cases molecular genetic analyses. The study will enroll subjects at NEI and collaborating institutions.

Outcome Measures: Linkage will be determined using the lod score method and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, and molecular modeling. Biochemical, metabolic, and physiological effects will be individualized to the specific assay.


Ages Eligible for Study:   4 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Subjects with the following will be recruited:

  1. Individuals or family members of individuals with corneal dystrophies and related corneal diseases.
  2. Adults must be capable of providing their own consent.
  3. All subjects must be able to cooperate with study examination and phlebotomy.
  4. Older than 4 years of age.


  1. Diseases, infections, or trauma that mimic corneal diseases.
  2. Children requiring sedation for study procedures.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00357435

United States, California
Jules Stein Eye Institute, UCLA
Los Angeles, California, United States
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Ohio
Cleveland Clinic
Cleveland, Ohio, United States
United States, Texas
University of Texas, Houston
Houston, Texas, United States, 77030
Zhongshan Opthalmic Center
Guangzhou, China
Seconda Universita degli
Naples, Italy
Sponsors and Collaborators
National Eye Institute (NEI)
Principal Investigator: James F Hejtmancik, M.D. National Eye Institute (NEI)
  More Information

Responsible Party: National Eye Institute (NEI) Identifier: NCT00357435     History of Changes
Other Study ID Numbers: 040008
Study First Received: July 26, 2006
Last Updated: April 19, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Positional Cloning

Additional relevant MeSH terms:
Corneal Dystrophies, Hereditary
Corneal Diseases
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn processed this record on May 25, 2017