Repository for Inherited Eye Diseases

This study will collect blood and DNA samples from patients with inherited eye diseases to be
used in research to identify genetic factors responsible for these conditions. In recent
years, nearly 500 genes that contribute to inherited eye diseases have been identified.
Disease-causing mutations are associated with many eye diseases, including glaucoma,
cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. As
a result, gene-based therapies are being pursued to treat eye genetic diseases that were once
considered untreatable.

The National Ophthalmic Genotyping Network (eyeGENE ) is creating a national tissue
repository to further advance genetic research on inherited eye disease, while at the same
time providing clinically-useful information back to patients and physicians who request it..
Physicians in collaborating institutions will recruit patients to participate in the study.
Patients will provide a blood sample and undergo a standard eye examination. The blood sample
and clinical information will then be sent to the NEI for testing, processing and storing in
the tissue repository. Patients are given the option to receive results back and/or to be
re-contacted in the event of future clinical studies. Information supplied to the testing
laboratories includes a unique identification number, the patient gender, and the patient
date of birth. The stored samples will be made available to researchers along with
information about the patient's disease, but without patient identifiers.