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Scientists seek genetic clues to rare eye disorders

NCT ID NCT01778543

First seen Nov 01, 2025 · Last updated May 23, 2026 · Updated 31 times

Summary

This study aims to uncover the genetic causes of microphthalmia, anophthalmia, and uveal coloboma (MAC) — rare eye conditions that can lead to vision loss or blindness. Researchers will collect DNA samples and medical information from 600 people with MAC and their close relatives. The goal is to better understand how these conditions develop, which may help improve diagnosis and future treatments.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.