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Clinical and Molecular Studies in Families With 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: NCT02771236
Recruitment Status : Recruiting
First Posted : May 13, 2016
Last Update Posted : April 2, 2021
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Brief Summary:


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.


To try to identify the genes linked to the development of inherited eye diseases.


People ages 4 and older who have or have a family member with an inherited eye disease


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.

Condition or disease
Inherited Eye Disease

Detailed Description:

Objective: This project, Clinical and Molecular Studies in Families with Inherited Eye Disease will study inherited eye diseases, both Mendelian and complex age related inherited eye diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause inherited eye diseases and the pathophysiology through which they act. Among the diseases studied will be cataracts, corneal dystrophies and other corneal diseases, retinal degenerations, myopia and other anterior chamber defects, and glaucoma.

Study Population: Families and individuals of many nationalities and ethnic backgrounds. We will study a maximum of 5,000 patients and family members.

Design: The study consists of ascertaining individuals and especially families with multiple individuals, affected by both congenital and age related inherited eye diseases. These participants and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family. Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified, or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis. If necessary, the gene product will be characterized biochemically. Blood samples may also be used to complete analyses such as: hemoglobin A1c (HbA1c), fasting blood glucose, and glucose tolerance tests. The study will enroll participants at NEI and collaborating institutions.

Outcome Measures: Linkage will be determined using the lod score method, association will be determined using standard statistical procedures to estimate p values, and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, bioinformatic prediction of structural damage to the protein, and molecular modeling. Assessment of biochemical, metabolic, and physiological effects of these mutations will be individualized to the specific case.

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Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Molecular Studies in Families With Inherited Eye Disease
Actual Study Start Date : October 4, 2016
Estimated Primary Completion Date : January 1, 2032
Estimated Study Completion Date : January 1, 2032

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eye Diseases

Affected Participants
Participants with inherited eye diseases
Unaffected family members
Family members without eye disease

Primary Outcome Measures :
  1. Statistically Significant Linkage or association [ Time Frame: Ongoing ]
    Establish statistically significant evidence for linkage between disease and marker loci, association between disease and marker alleles, or causality of disease alleles using a combination of maximum likelihood or statistical analyses.

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:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Up to 5,000 participants with inherited or age-related visual disorders and their family members. Participants will be recruited from NEI and collaborating clinics.

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 mimic 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 procedures.

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): NCT02771236

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Contact: James F Hejtmancik, M.D. (301) 435-1598

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United States, California
University of California, San Diego Recruiting
La Jolla, California, United States, 92093-0603
Contact: Radha Ayyagari, Ph.D.    858-534-9029   
University of California, Los Angeles Recruiting
Los Angeles, California, United States, 90095
Contact: Michael Gorin, M.D.    310-794-5400   
United States, Maryland
National Institutes of Health Clinical Center 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   
Zhongshan Ophthalmic Center Recruiting
Guangzhou, China
Contact: Qingjiong Zhang, M.D.    862087330400   
Seconda Universita di Napoli Recruiting
Napoli, Italy
Contact: Francesca Simonelli, M.D.    081-770-04501   
University of the Punjab Recruiting
Lahore, Pakistan
Contact: Sheikh Riazuddin, Ph.D.    92-42-542-1235   
University of the Philippines Recruiting
Manila, Philippines
Contact: Leo Cubillan, M.D.    63-2-5247119   
The National Academy of Medical Sciences of Ukraine Recruiting
Odessa, Ukraine
Contact: Tatyana Romanova    (804) 872-9843   
Sponsors and Collaborators
National Eye Institute (NEI)
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Principal Investigator: James F Hejtmancik, M.D. National Eye Institute (NEI)
Additional Information:
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Responsible Party: National Eye Institute (NEI) Identifier: NCT02771236    
Other Study ID Numbers: 160104
First Posted: May 13, 2016    Key Record Dates
Last Update Posted: April 2, 2021
Last Verified: March 31, 2021
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Additional relevant MeSH terms:
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Eye Diseases