eyeGENE Study for Inherited Eye Diseases

eyeGENE Study for Inherited Eye Diseases

Full Study Title
National Ophthalmic Genotyping and Phenotyping Network, Stage 1 — Creation of DNA Repository for Inherited Ophthalmic Diseases

Summary

The main goal of this research is to understand genetic eye conditions and to identify the genetic factors responsible for causing such diseases. To help us in this research, we need DNA samples from a large number of people with different eye diseases. We are working with researchers at the National Eye Institute (NEI) to set up a system, the eyeGENE® network, to enroll people with eye disease, to obtain information on their eye examinations, and to collect blood from which we can extract the genetic material, DNA. The information and samples obtained will be used to test for genes that might be involved in the eye disease in your family and will also be placed in a bank to make it available to other researchers, now and in the future, who are studying eye diseases.

The anticipated number of participants at the Eye Institute/Children’s Hospital of Wisconsin is estimated to be about 50 per year. The total number of participants (both children and adults, age 0 and up) to be enrolled nationwide is 10,000.

Participant Eligibility

Inclusion Criteria
-You have one of the following eye conditions:
Achromatopsia
Choroideremia
Stargardt disease
Retinitis Pigmentosa
-A full list of conditions may be found on the eyeGENE® web site.
-You are willing and able to provide informed consent and provide a blood sample.


Study ID: NCT00378742

Study Sites
Medical College of Wisconsin- The Eye Institute

Principal Investigator(s)
Dr. Kimberly Stepien, M.D.

Contact
Krissa Packard
(414) 955-7910
kpackard@mcw.edu