Screening for Research Participants

This protocol is designed for the screening of potential research participants with or without a defined diagnosis. This protocol will serve as a point of entry for individuals who may be eligible and wish to participate in the National Eye Institute (NEI) clinical research studies.

Patients who are referred or self-referred will be screened and evaluated during the screening process to determine whether they are suitable participants for any of the ongoing NEI research studies. The screening process may include past and current medical history, a physical examination, diagnostic procedures, and required testing used to establish a patient s diagnosis and determine his/her potential eligibility for research participation. Once the screening process is complete, patients will be informed of their options to participate in one or more of the NEI's current clinical research protocols or natural history studies. If no appropriate research protocol is available for their participation, the patient may receive potential treatment recommendations, which will be shared with the patient s primary provider and referring physician.

This protocol's secondary aim is to collect and store human biospecimens and health information for basic science laboratory research and to generate and test hypotheses. Through such studies, research investigators hope to find possible new ways to detect, treat, and even prevent or cure ophthalmological diseases. Genetic and genomic testing, and biospecimen samples such as blood, body fluid (e.g., urine), and tissue (e.g., skin) may be collected from affected or unaffected adult participants. Biospecimen samples can be obtained at the time of screening or any time after screening. These samples, combined with other clinical data, may be used for basic science laboratory research or stored and used in future research studies. Biospecimen sample collection is voluntary for all participants.

• INCLUSION CRITERIA:

Participants will be able to enroll if they:

• Have a diagnosed ocular disease/disorder; OR
• Potentially have an unusual, interesting, or unknown ocular condition that requires the establishment of a diagnosis; OR
• Potentially participate as a disease-free control participant in an NEI clinical research study; OR
• Are an unaffected first-degree relative of a participant with either a diagnosed or undiagnosed ocular disorder; AND
• Have the ability to understand and sign an informed consent OR if they are minor children have a legal parent/guardian with the ability to do the same.
• Adults with impaired capacity to consent must have a Legally Authorized Representative (LAR) who is able to provide informed consent.

Exclusion criteria

Participants will be unable to enroll if they:

• Are unwilling or unable to cooperate with the study procedures.
• Female participants of childbearing potential who are pregnant are not eligible for enrollment.