Genetic Study for Eye Conditions like Microphthalmia
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
Recruiting
Observational Study
Coloboma
Anophthalmia
Microphthalmia
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 1 – 100
- Sex
- Any
- Study type
- Observational
- Participants needed
- 600 (estimated)
- Sponsor
- National Eye Institute (NEI) · NIH
Who this trial is looking for
This trial is looking for individuals age 1 and older who have microphthalmia, anophthalmia, or uveal coloboma, or their unaffected family members. Participants will undergo eye exams and provide genetic samples for testing.
Are You a Good Fit for This Trial?
You may be able to join if
- I am at least 1 year old
- I can have an eye examination
- I can provide a blood or saliva sample
- I can understand and sign the informed consent
- I have microphthalmia, anophthalmia, or uveal coloboma, or
- I am a relative of someone with one of these conditions
You may not be able to join if
- I am pregnant
- I am an employee or subordinate of the study's investigator
Summarized in plain language from this trial's official eligibility criteria. The full criteria are further down this page — only the research team can confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
Background:
\- 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. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, …
Trial Locations
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Eligibility Criteria
* INCLUSION CRITERIA:
* The participant must be one year of age or older.
* 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.
* The participant must be able to provide a blood, buccal/saliva, or DNA sa…
Contacts