Scientists investigate rare eye disease that blinds young boys
NCT ID NCT00055029
First seen Jun 24, 2026 · Last updated Aug 07, 2026 · Updated 9 times
Summary
This study looks at X-linked juvenile retinoschisis (XLRS), a rare inherited eye disease that causes vision loss in young males. Researchers will examine 351 participants, including affected males and female carriers, using eye exams, retinal photos, and genetic tests. The goal is to better understand how the disease develops and progresses, which could pave the way for future 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 study could provide a detailed understanding of how XLRS progresses, which may guide the development of future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly benefit participants and may not lead to a therapy for many years.
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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
Bethesda, Maryland, 20892, United States
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William Beaumont Hospital
Rochester, Michigan, 48309, United States
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