This study is currently recruiting participants.
Number
13-EI-0049
Sponsoring Institute
National Eye Institute (NEI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Genetics; Repository; Advanced Retinal Disease; Natural History
Recruitment Keyword(s)
Condition(s)
Coloboma
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Eye Institute
- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relatives (such as parents and siblings).
Objectives:
- To study the genes associated with uveal coloboma.
Eligibility:
- Individuals at least 1 years of age who either have uveal coloboma or are an unaffected relative (such as a parent or sibling).
Design:
- Participants will have a physical exam and medical history. They will also have a full eye exam.
- Participants with uveal coloboma may have other exams, such as imaging studies and hearing assessments.
- All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.
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INCLUSION CRITERIA: 1. The participant must be one year of age or older. 2. The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report. 3. The participant must be able to provide a blood, buccal/saliva or DNA sample. 4. The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian/representative with the ability to do the same. 5. The participant must either: a. be affected by MAC(i) OR b. be an asymptomatic relative of an affected individual. (i)Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation cosegregating with MAC, or a rare or unique kidney finding). EXCLUSION CRITERIA: Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study.
1. The participant must be one year of age or older.
2. The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.
3. The participant must be able to provide a blood, buccal/saliva or DNA sample.
4. The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian/representative with the ability to do the same.
5. The participant must either:
a. be affected by MAC(i) OR
b. be an asymptomatic relative of an affected individual.
(i)Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation cosegregating with MAC, or a rare or unique kidney finding).
EXCLUSION CRITERIA:
Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study.
Principal Investigator
Referral Contact
For more information: