EyeGene Creation of Repository for Inherited Ophthalmic Diseases

Principal Investigator: Paul Bernstein
Keywords: EyeGene , genetic testing , genotyping Department: Ophthalmology-Services
IRB Number: 00020555 Co Investigator: Alan Crandall
Specialty: Ophthalmology
Sub Specialties:
Recruitment Status: Active, not recruiting

Contact Information

Kelliann  Farnsworth
(801) 585-7975

Brief Summary

Molecular genetics has the potential to revolutionize the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease would be augmented by the availability of patient DNA coupled to robust, anonymous phenotypic information. The National Ophthalmic Genotyping Network (eyeGENE) has been created to answer this need. We propose the creation of a national repository of DNA and blood for inherited eye disease. These samples will be gathered from clinical centers around the nation and will be coupled to anonymous, phenotypic descriptors. If requested, a portion of the DNA/ blood submitted by a clinician will be used for appropriate, CLIA-certified molecular diagnostics that can be used in patient care. Once a sufficient repository is created, researchers will be able to request aliquots for their laboratory experiments. Participants will be provided the option to be re-contacted if an approved clinical study for which they might qualify is offered.

The overall goals of eyeGENE are:
• To provide a repository of DNA coupled to anonymous phenotypic information for
• To provide molecular diagnosis to patients with inherited eye diseases
• To establish genotype-phenotype correlations for rare eye diseases
• To enhance recruitment for clinical trials and investigations in inherited eye diseases This initial protocol (Stage 1-- Creation of Repository for Inherited Ophthalmic Diseases) is designed to accomplish the first two of these goals, while keeping the latter two aims in mind.

Specific role of Paul Bernstein:

Patients potentially of interest to this research will be identified during their routine clinic visits by the clinical investigators and other Ophthalmology providers. The ophthalmologist will explain the research to patients and invite them to participate in the study. After informed consent is obtained, the patients’ medical records will be reviewed and a thorough eye examination will be performed, along with any ophthalmic diagnostic tests needed for standard of care (e.g. electroretinogram, electrooculogram, fluorescein angiography). Study procedures (family history and blood draw) may increase the length of the scheduled clinic visit by about one-half hour. The entire visit may take 1 to 2 hours.

Inclusion Criteria

Participants of any age may be included if they are affected by one of the eye diseases studied.
1. To participate in this protocol, the participant or his/her appropriate representative must sign the protocol’s informed consent/assent.
2. The participant must present with characteristics consistent with a diagnosis included in eyeGENE® as determined by the referring clinician and the eyeGENE® clinical reviewers in the eyeGENE® Working Group, and that meet the clinical criteria established by eyeGENE
3. The participant must be willing and able to provide a suitable blood sample to yield the acceptable amount more than 50 µg of DNA.

Exclusion Criteria

1. Participant presents with severe systemic disease(s) that compromise the investigator’s ability to provide adequate examination.
2. Age will be exclusionary only with regard to difficulties and limitations of phlebotomy and clinical examination.
3. Participants with impaired decision-making capabilities for whom there is no clear designated representative.