Scientists hunt for genes behind rare eye conditions
NCT ID NCT01778543
First seen Jun 24, 2026 · Last updated Aug 07, 2026 · Updated 11 times
Summary
This study aims to uncover the genetic causes of a group of eye conditions called MAC (microphthalmia, anophthalmia, and uveal coloboma), which can lead to vision loss or blindness. Researchers will collect DNA samples from 600 people—both those with MAC and their close relatives—to search for gene changes linked to these disorders. Participants will undergo eye exams and provide blood or saliva samples. The goal is to better understand why these conditions occur, which may help with future diagnosis and family planning.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this research could identify new genes linked to MAC, improving genetic counseling and future diagnostic approaches.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly benefit participants, and genetic findings may take years to translate into clinical use.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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