National Eye Institute Biorepository for Retinal Diseases

Background:

- To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some people respond to treatment while others do not. Researchers want to collect physical samples and personal data to develop a National Eye Institute database.

Objectives:

- To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies.

Eligibility:

• Individuals of any age with different types of eye disease.
• Healthy volunteers with no history of eye disease.

Design:

• Participants may be recruited from National Eye Institute studies or may be referred from other sources.
• Participants will be screened with a physical exam and medical history. They will also have a full eye exam. Questions will be asked about family medical history, especially about eye disease.
• Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and urine, may be collected as needed. Adult participants may also provide a skin sample.
• Tissue or fluid from eye collected as part of eye care or treatment may also be added to the database.
• No treatment will be provided as part of this study.

This study establishes a clinical database and biospecimen repository for the identification of novel factors relevant to the pathogenesis, progression, and response to treatment of a variety of retinal conditions, particularly age-related macular degeneration and diabetic retinopathy, and their associated systemic correlates of disease.

Objectives: This study provides for standardized collection of longitudinal clinical data and for serial collection, processing, and storage of a variety of biospecimens. The clinical data set and biospecimen repository will be used to identify novel genetic factors, biomarkers, and experimental models associated with pathogenesis, progression, and response to treatment for various conditions of the retina and their associated systemic correlates of disease.

Study Population: We plan to accrue 500 participants with age-related macular degeneration (AMD), 300 participants with diabetic retinopathy, up to 1,000 participants with other retinal diseases, and 500 participants without any retinal disease.

Design: This is a prospective observational study of multiple retinal diseases and suitable controls incorporating:

1. Standard of care management of eye diseases with a standardized follow-up and testing schedule; and
2. Collection of biospecimens for research purposes for which sampling does not incur more than minimal risk to participants.

Outcome Measures: Outcome measures include the interaction of key parameters of phenotype (such as visual acuity and retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens, and the characterization of new experimental models of eye health and disease.

• Age-Related Macular Degeneration
• Diabetic Retinopathy
• Von Hippel-Lindau Syndrome
• Retinal Disease
• Retinal Vein Occlusion

• Wiggs JL. Genomic promise: personalized medicine for ophthalmology. Arch Ophthalmol. 2008 Mar;126(3):422-3. No abstract available.
• Baird PN, Hageman GS, Guymer RH. New era for personalized medicine: the diagnosis and management of age-related macular degeneration. Clin Experiment Ophthalmol. 2009 Nov;37(8):814-21. Review.
• Brooks BP, Macdonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA; National Ophthalmic Disease Genotyping Network (eyeGENE). Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol. 2008 Mar;126(3):424-5. No abstract available.

• INCLUSION CRITERIA:

Participants will be eligible if they:

1. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children.
2. Manifest diagnosed or undiagnosed retinal disease or could serve as an unaffected control.

EXCLUSION CRITERIA:

Participants will not be eligible if they:

1. Are unable or unwilling to give informed consent that includes collection and study of at least one peripheral blood sample.
2. Are unable or unwilling to give informed consent that includes use of NIH medical records and clinical samples for research related to vision and diseases affecting the eyes.
3. Are unable or unwilling to be managed as clinically indicated.
4. Have a systemic disease that compromises the ability to provide adequate ophthalmologic examination or treatment.

The eligibility requirements for this protocol are intended to be broadly inclusive, but those individuals found to be ineligible may be evaluated under the NEI Screening Protocol (08-EI-0102) for potential participation in other studies. Adults unable to understand and sign an informed consent are excluded from this study because they are frequently unable to cooperate with evaluation and testing in the manner standardized for other adult participants.