Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases
| Status: | Completed |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | 4 - Any |
| Updated: | 2/28/2019 |
| Start Date: | October 6, 2003 |
| End Date: | July 21, 2016 |
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.
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.
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.
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.
- INCLUSION CRITERIA:
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.
EXCLUSION CRITERIA:
1. Diseases, infections, or trauma that mimic corneal diseases.
2. Children requiring sedation for study procedures.
We found this trial at
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sites
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