Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Chelsea Bender, Elizabeth Geena Woo, Bin Guan...
https://pubmed.ncbi.nlm.nih.gov/35456481Actively Recruiting
Age: 1Year - 120Years
All Genders
Healthy Volunteers
ID02471287
The Genetics of Inherited Eye Disease
Led by National Eye Institute (NEI) · Updated on 2026-06-05
1500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying inherited eye diseases to identify the genes involved and understand how symptoms vary among people with similar genetic changes. The study aims to gather detailed genetic information and clinical data to support the development of precise treatment and prevention strategies for vision-threatening conditions. This research is also designed to help establish protocols for specific inherited eye disorders and serve as a referral center for undiagnosed genetic eye diseases. Participants include individuals with known or suspected inherited eye diseases and their unaffected relatives. All participants undergo a medical history review, physical exam, and eye exam, along with blood or saliva sample collection. Some may also provide additional biological samples such as skin biopsies, eye cell samples, tears, urine, saliva, stool, hair, or cheek cells. Various specialized eye tests may be performed, including retina tests, eye movement tests, fluorescein angiography, microperimetry, and color vision assessments. Optional procedures may include MRI and completion of questionnaires. Throughout the study, participants’ clinical data, eye exam results, and biological samples will be collected and analyzed. Outcome measures focus on establishing a study cohort and identifying the best clinical variables to measure treatment effects. The study also aims to reveal related health conditions, collect research samples, and determine the genetic causes of inherited eye diseases. Participation involves ongoing evaluations, with data securely stored and used to support future research. The study is open to participants aged 1 to 120 years and includes both affected individuals and healthy volunteers related to them.
CONDITIONS
Brief Title
Genetics of Inherited Eye Disease
Who Can Participate
Age: 1Year - 120Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Have a known or suspected inherited eye disease or be an unaffected first-degree relative of such a participant
- Ability to cooperate with an age-appropriate eye exam
- Ability to understand and sign informed consent or have a parent/legal guardian or authorized representative do so if needed
You will not qualify if you...
- Unwilling or unable to be followed as clinically indicated
- Clear non-genetic disease cause unless an unaffected relative
- Participation would not contribute to the research mission, as decided by the Principal Investigator
- For MRI: presence of metal in the body making MRI unsafe (e.g., pacemakers, implants, shrapnel)
- For MRI: claustrophobia or inability to lie still for up to one hour
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - One-time assessment at enrollment
Participants undergo a complete, age-appropriate baseline eye examination and may provide blood or saliva samples. Some may have specialized ophthalmic or systemic testing as clinically indicated.
1 visit (in-person)
Long-term Monitoring
Duration - Ongoing throughout participation until study completion
Participants are observed with data and specimens collected through clinical care procedures and optional research sample collections over time to understand genetic causes and molecular pathogenesis of inherited eye diseases.
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
D
Daniel W Claus, R.N.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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