This study will evaluate and provide standard treatments for people with various eye
conditions. It will provide a resource for enrollment into new research protocols throughout
the Eye Institute and will allow institute specialists the opportunity to maintain their
expertise and gain additional knowledge of the course of various eye disorders. The
information obtained will allow for the evaluation of standard treatments and may lead to
ideas for future research.
People with diagnosed or undiagnosed eye disease and first-degree relatives of people with a
genetic or developmental eye disease may be eligible for this study. Participants are
evaluated and treated in the National Eye Institute. Blood or other tissue samples (e.g.,
urine, stool, hair, saliva or cheek swab) may be collected for future laboratory studies.
The National Eye Institute (NEI) is conducting a study to evaluate and provide standard
treatment to participants with various diagnosed and undiagnosed ocular conditions.
Objectives: The primary objective of this protocol is to provide a reservoir of patients for
enrollment into new research protocols throughout the NEI laboratories. Evaluating and
treating participants will allow the NEI specialists to maintain their expertise and gain
additional knowledge of the course of various eye disorders. The information obtained will
allow for the evaluation of standard treatments of the studied eye diseases. This
understanding may lead to ideas for future protocols. In some cases, blood or other biologic
samples (including tear fluid, urine, saliva, hair, stool or a cheek swab) will be obtained
for future laboratory studies.
Study Population: The number of participants to be enrolled has no logical upper limit, but
will be set to 5,000 patients with ocular diseases and their unaffected first-degree
Design: This is an observational natural history study of multiple ocular diseases and their
progression and physiology.
Outcome Measures: No formal outcomes will be measured; however the clinical assessments of
enrolled participants can be used to measure the response to standard treatment. In addition,
DNA samples obtained may be used to identify and verify causative mutations, which may help
establish pathogenic mechanisms and genotype-phenotype correlations.
- INCLUSION CRITERIA:
Participants will be eligible if they:
- Have either a diagnosed or undiagnosed eye disease, OR are an unaffected first-degree
relative of a participant with a genetic or developmental eye disease.
- Have the ability to understand and sign an informed consent or have a parent/legal
guardian to do so if they are minor children.
Participants will not be eligible if they:
- Are unable or unwilling to give informed consent.
- Are unwilling or unable to be followed as clinically indicated.
- Have a systemic disease that compromises the ability to provide adequate
ophthalmologic examination or treatment.