eyeGENE study: genetics of rare eye diseases
Part of Eyes & vision, Genetic & congenital, Hormones & metabolism, Skin clinical trials.
This study collects DNA samples and medical information from people with rare inherited eye diseases and their close relatives. The goal is to learn more about the genetic causes of these conditions and improve diagnosis and care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a rare inherited eye condition like aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, or albinism.
- You are a close relative (for example, a parent, sibling, or child) of someone with one of these conditions.
- You previously took part in the eyeGENE study and may need more genetic testing.
- You can safely give a saliva sample or a small blood sample (about 5 mL).
- You do not have a condition that makes giving a blood sample unsafe.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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