Participants can be enrolled through a referring physician/genetic counselor or can contact Linda Reis, MS, CGC, Study Coordinator, to enroll directly in person or via phone/mail.
Enrollment Packet Link (PDF)
An enrollment packet must be completed for EVERY individual who provides a sample
* A signed consent form must be included for each sample submitted with minor assent obtained for individuals ages 7-18 years.
* Note that the Medical Records Release form needs to be completed for each person, including unaffected individuals,
* Please complete an Authorization for Disclosure of Patient Health Information for ophthalmology records
* When possible, include photographs of the affected individual’s eye(s) and facial features
* 10 cc blood (or 1 ml/kg for children) into an EDTA (purple top) tube
* Label tubes with patient’s name, date of birth, and date collected
* If blood sample cannot be collected, please contact Linda Reis for information about DNA or buccal sample submission
* Sample collection kits can be provided upon request