Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- You have been diagnosed with aniridia (a condition where the colored part of the eye is missing or underdeveloped)
- You have been diagnosed with Best disease (an inherited condition that affects central vision)
- You have been diagnosed with blue-cone monochromacy (a rare color vision disorder affecting how the eyes detect light)
- You have been diagnosed with a corneal dystrophy (an inherited condition affecting the clear front surface of the eye)
- You have been diagnosed with a condition that causes reduced pigmentation and affects vision, such as albinism, Hermansky-Pudlak syndrome, or Chediak-Higashi syndrome
- You are a close blood relative of someone who has one of these conditions and is already taking part in this study
- You previously took part in the eyeGENE Stage 1 study and may benefit from additional genetic testing
Who may not be able to join:
- People who have difficulty making their own decisions and do not have a legally authorized representative (such as a legal guardian) to act on their behalf
- People who are unable to provide a saliva sample AND are also unable to safely provide a small blood sample (at least one teaspoon) for DNA testing
- People with a history of epilepsy cannot take part in the optional eye-imaging part of the study
- Children under the age of 18 cannot take part in the optional eye-imaging part of the study
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: Brian P Brooks, M.D., National Eye Institute (NEI)
Phone: (301) 435-3032
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
To expand the current eyeGENE data repository with targeted participant accrual.
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.