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Genetics of Inherited Eye Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02471287
Recruitment Status : Recruiting
First Posted : June 15, 2015
Last Update Posted : December 17, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Brief Summary:


Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes.


To learn more about genes involved in eye diseases.


People who have a known or suspected inherited eye disease, and their relatives.


  • All participants will have a medical history, physical exam, and eye exam. They may have blood taken.
  • Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure.
  • Participants may have a skin biopsy. A (Omega)-inch piece of skin will be removed.
  • Participants may have blood drawn and the red blood cells removed. The remaining serum will be made into an eye drop solution for the participant.
  • Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells.
  • Participants may have a retina test. They may also have a test that uses light to measure retina thickness.
  • Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes.
  • Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels.
  • Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light.
  • Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.

Condition or disease
Genetic Eye Disease

Detailed Description:


Molecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understanding of the genetics and molecular pathogenesis of vision-threatening disease. In addition, in order to determine whether an intervention is therapeutic, we must first have some understanding of what the best clinical outcome variables are for measuring a treatment effect. Because our ultimate goal is to develop disease-specific protocols for specific inherited conditions, establishing this protocol will help us establish an initial critical mass of patients and of knowledge to write such protocols; as such, this protocol will be hypothesis generating. A secondary aim of this protocol is to provide a mechanism for obtaining research samples from subjects that may be used for laboratory investigations; in this case, the basic research may be both hypothesis generating and/or hypothesis testing. Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical training program, should have the ability to serve as a tertiary referral center for the nation in the area of undiagnosed genetic eye diseases.


One thousand two hundred and fifty (1250) individuals with inherited eye diseases and their relatives will be enrolled.


This is a combined evaluation/treatment protocol and a genetic repository study. In general, participants will undergo a complete, age-appropriate, baseline examination and provide a blood sample. Some participants may undergo more specialized ophthalmic and/or systemic testing, if felt clinically indicated by the investigator. In some cases, collection of readily available body fluids (e.g., urine, saliva) and/or a punch skin biopsy may also be performed for diagnostic and/or research purposes.


Given the breadth of ages and disease processes covered under this protocol, we will not systematically obtain any single outcome variable beyond visual acuity on research subjects. However, detailed, disease-specific findings will be collected through the NEI electronic medical record. Findings from systemic testing and from outside exams may be tabulated in a separate, secure database in the laboratory of the Principal Investigator (PI).

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Study Type : Observational
Estimated Enrollment : 1250 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Genetics of Inherited Eye Disease
Actual Study Start Date : June 22, 2015
Estimated Primary Completion Date : September 1, 2022
Estimated Study Completion Date : September 1, 2022

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eye Diseases

Affected Patients
Participants with eye disease
Unaffected first degree relatives
Unaffected first degree relatives of participants with a known or suspected inherited eyedisease.

Primary Outcome Measures :
  1. Establish Cohort [ Time Frame: Ongoing ]
    Establish an initial "critical mass" of participants and knowledge to develop disease- specific protocols for specific inherited eye conditions.

Secondary Outcome Measures :
  1. Determine the genetic cause(s) and molecular pathogenesis [ Time Frame: ongoing ]
    Determine the genetic causes(s) and molecular pathogenesis of a known or suspected inherited disorder of vision in an individual patient and his/her family.

  2. Suggest best clinical outcome measures [ Time Frame: ongoing ]
    Suggesting the best clinical outcome measures to follow patients with various inherited eye diseases

  3. Provide a mechanism for collecting biological samples [ Time Frame: ongoing ]
    Provide a mechanism for collecting biological samples from well-phenotyped subjects for basic laboratory research

  4. Revealing systematic comorbidities [ Time Frame: ongoing ]
    Revealing systematic comorbidities that occur in patients with various inherited eye diseases

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
1250 participants with known or suspected eye diseases and their unaffected relatives will be accrued from this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.

Participants will be eligible if they:

  1. Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
  2. Have the ability to cooperate with an age-appropriate eye exam.
  3. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity.


Participants will not be eligible if:

  1. They are unwilling or unable to be followed as clinically indicated.
  2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
  3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.

Exclusion Criteria for MRI (if applicable)

Participants will not be eligible for optional MRI procedure if:

  1. They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
  2. They have claustrophobia and would feel uncomfortable in the MRI machine.
  3. They are not able to lie comfortably on their back for up to one (1) hour.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02471287

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Contact: Daniel W Claus, R.N. (301) 496-9058

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Eye Institute (NEI)
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Principal Investigator: Wadih Zein, M.D. National Eye Institute (NEI)
Additional Information:
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Responsible Party: National Eye Institute (NEI) Identifier: NCT02471287    
Other Study ID Numbers: 150128
First Posted: June 15, 2015    Key Record Dates
Last Update Posted: December 17, 2019
Last Verified: December 11, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Additional relevant MeSH terms:
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Eye Diseases