NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 days
Max Age: 120 Years

Referral Letter Required


Population Exclusion(s)



Whole Genome Sequencing;
Genetic Eye Disease;
Natural History

Recruitment Keyword(s)



Genetic Eye Disease

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Eye Institute

Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing. This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genetic conditions involving the eye.

Study Population: We plan to recruit 1,685 participants, to include both participants with an eye condition under study and unaffected family members. Ideally unaffected family members will be parents of an affected participant.

Design: Most affected participants will be recruited from existing studies at the NEI. These include, but are not limited to, the Screening Protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134), the Genetics of Inherited Eye Disease protocol (15-EI-0128) and the Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) study (13-EI-0049). Unaffected family members will be invited to participate once an affected relative is determined eligible for participation. Offsite affected and unaffected participants will also be enrolled. If a participant is self-referred or referred to the study by an outside provider, screening will determine whether participation is offered.

Offsite participants will be screened via phone or secure videoconference, and records will be requested for evaluation of affected participants.. Both affected and unaffected eligible participants will undergo genetic counseling and will provide a blood sample and/or saliva sample for exome or genome sequencing. Biological relationships may be confirmed prior to exome or genome sequencing. Sequence data will be analyzed for primary variants and secondary findings, unless participants choose to opt-out of secondary analysis and reporting. All sequence variants deemed clinically relevant will be validated in a CLIA-certified laboratory and the results will be returned to the participant in-person, secure video conference, or by telephone.

Outcome Measures: This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized conditions involving the eye.

--Back to Top--



1. Participant is affected with an eye condition under study, or is a family member of an affected individual who will be informative for ES/GS analysis and interpretation.

2. Participant or legal guardian of participant understands and signs the informed consent document.


1. Participants who cannot comply with study procedures are ineligible.

2. Participants who are minors or participants who are adults and are decisionally impaired are ineligible if they do not have a legal guardian who can consent and make decisions on their behalf. Documentation of legal guardianship must be provided for decisionally impaired adults.

3. Participants who are minors and under joint custody are ineligible if parents are in disagreement about study participation.

4. Prospective participants or their legal guardians who, based on the judgment of the team, appear to have impaired ability to understand and appropriately use complex medical and genetic information, or to cope with potentially life altering medical information, will be ineligible.

--Back to Top--


Not Provided

--Back to Top--


Principal Investigator

Referral Contact

For more information:

Bin Guan, Ph.D.
National Eye Institute (NEI)
(301) 594-0029

Delphine Blain, M.D.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10N226
10 Center Drive
Bethesda, Maryland 20892
(301) 496-1410

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


--Back to Top--