Clinical and Genetic Studies in Families With Myopia and Related Diseases
| Status: | Completed |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | 4 - Any |
| Updated: | 4/6/2019 |
| Start Date: | December 21, 2005 |
| End Date: | July 29, 2016 |
Clinical and Molecular Studies in Families With Myopia and Related Diseases
This study will examine the inheritance of myopia in families of various nationalities and
ethnic backgrounds to identify gene changes that cause myopia or similar diseases and to
better understand these conditions. In patients with myopia, the eye does not focus light
accurately on the retina (tissue that lines the back of the eye), so that objects at a
distance appear blurry. Myopia may occur alone, with other vision problems such as retinal
dislocations, cataract or glaucoma, or with other problems such as joint or skin problems.
People with myopia (usually those from families with several affected members) and control
subjects with normal vision may be eligible for this study.
Each participant undergoes the following procedures:
- Blood draw for genetic testing related to the disorders under study
- Medical and family history, including drawing a family tree to explore vision problems
in the family
- Complete eye examination, including refraction (pupil dilation) and visual acuity
testing, photographs of the retina and possibly lens, and specialized tests to measure
field of vision, color vision and ability to see in the dark
ethnic backgrounds to identify gene changes that cause myopia or similar diseases and to
better understand these conditions. In patients with myopia, the eye does not focus light
accurately on the retina (tissue that lines the back of the eye), so that objects at a
distance appear blurry. Myopia may occur alone, with other vision problems such as retinal
dislocations, cataract or glaucoma, or with other problems such as joint or skin problems.
People with myopia (usually those from families with several affected members) and control
subjects with normal vision may be eligible for this study.
Each participant undergoes the following procedures:
- Blood draw for genetic testing related to the disorders under study
- Medical and family history, including drawing a family tree to explore vision problems
in the family
- Complete eye examination, including refraction (pupil dilation) and visual acuity
testing, photographs of the retina and possibly lens, and specialized tests to measure
field of vision, color vision and ability to see in the dark
Objective: This project, Clinical and Molecular Studies in Families with Myopia and Related
Diseases will study the inheritance of myopia in families of many nationalities and ethnic
backgrounds in order to identify the genes that, when mutated, cause myopia, high myopia, or
similar diseases and the pathophysiology through which they act.
Study Population: The number of subjects to be enrolled has no logical upper limit, but will
be at least 250 and not more than 2000 during the next 5 years. The study consists of
ascertaining individuals and especially families with multiple individuals, affected by
myopia or related ocular diseases.
Design: These patients and their families will undergo detailed ophthalmological examinations
and, where indicated, additional non-investigational examinations to characterize disease in
their families and determine their affectation status. A blood sample will be collected from
each individual for isolation of DNA and in some individual s biochemical studies or 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 myopia in this family. If necessary,
the gene product or blood sample will be characterized biochemically. The study will enroll
subjects at the NEI and at collaborating centers including the Zhongshan Ophthalmic Center of
Sun Yat-Sen University, Guangzhou, China.
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.
Diseases will study the inheritance of myopia in families of many nationalities and ethnic
backgrounds in order to identify the genes that, when mutated, cause myopia, high myopia, or
similar diseases and the pathophysiology through which they act.
Study Population: The number of subjects to be enrolled has no logical upper limit, but will
be at least 250 and not more than 2000 during the next 5 years. The study consists of
ascertaining individuals and especially families with multiple individuals, affected by
myopia or related ocular diseases.
Design: These patients and their families will undergo detailed ophthalmological examinations
and, where indicated, additional non-investigational examinations to characterize disease in
their families and determine their affectation status. A blood sample will be collected from
each individual for isolation of DNA and in some individual s biochemical studies or 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 myopia in this family. If necessary,
the gene product or blood sample will be characterized biochemically. The study will enroll
subjects at the NEI and at collaborating centers including the Zhongshan Ophthalmic Center of
Sun Yat-Sen University, Guangzhou, China.
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:
1. Individuals or family members of individuals with myopia, either congenital,
childhood, or older.
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 primary myopia.
2. Children requiring sedation for study procedures.
We found this trial at
2
sites
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9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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