For Healthcare Professionals

Clinical and Molecular Studies in Families With Inherited Eye Disease


About the study

Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests.

Who can take part

You may be eligible to participate in the study if you meet the following criteria:



To be eligible, the following inclusion criteria must be met, where applicable;

  1. Participant must be four years of age or older.
  2. Participant must understand and sign the protocol s informed consent document.
  3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
  4. All participants must be able to cooperate with study examination and phlebotomy.



A participant is not eligible if any of the following exclusion criteria are present:

  1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
  2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
  3. Participant requires sedation for study purposes.
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Study Locations

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How to Apply

Contact the study center to learn if this study is a good match for you.

Study’s details


Inherited Eye Disease

Age (in years)

4 - 120

Participants needed


Est. Completion Date

Jan 1, 2032

Treatment type



National Institutes of Health Clinical Center (CC) identifier


Study number


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