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Massive eye gene bank aims to unlock secrets of rare blindness

NCT ID NCT06491615

Recruiting now Knowledge-focused Sponsor: National Eye Institute (NEI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repository that helps scientists understand genetic causes and develop better treatments.

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 could help researchers find genetic causes of rare eye diseases and speed up development of new treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and results depend on future research.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

albinism aniridia blue cone monochromacy Chediak-Higashi syndrome corneal dystrophy Hermansky-Pudlak syndrome hypopigmentation of the skin ocular albinism oculocutaneous albinism vitelliform macular dystrophy vitelliform macular dystrophy 2 vitiligo

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ALBINISM ANIRIDIA BEST DISEASE BLUE-CONE MONOCHROMACY CORNEAL DYSTROPHY HYPOPIGMENTATION DISORDER INHERITED OPHTHALMIC DISEASES

Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Eye Institute (NEI)

    RECRUITING

    Bethesda, Maryland, 20892, United States

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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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