View clinical trials related to Retinoschisis.
Filter by:Background: - X-linked juvenile retinoschisis (XLRS) is caused by changes in the RS1 gene. These changes cause abnormal function of the eye protein retinoschisin. Without normal retinoschisin, the layers of the retina split and vision is lost. Researchers want to try to introduce a healthy RS1 gene into eye cells, to see if this helps retinal cells make healthy retinoschisin. They will put the gene in a virus. The gene and virus package is known as a gene transfer vector (AAV-RS1 vector). Objectives: - To see if the AAV-RS1 vector is safe to use in people. Eligibility: - Adults 18 and older with a mutation of the RS1 gene, 20/63 vision or worse in one eye, and XLRS. Design: - Participants will be screened with genetic tests to confirm XLRS. They will have a medical history and physical and eye exams. - At visits 1-2, participants will have some or all of the following: - Medical history - Physical exam - Blood and urine tests - Tuberculosis skin test - Eye exam - Vision tests (for one test an intravenous line will be placed in the arm. A dye will be injected that will travel to the blood vessels in the eye). - At visit 3, the AAV-RS1 vector will be injected with a needle in the study eye. Participants pupils will be dilated. They will get numbing eye drops. - Visits 4-13 will occur in the 18 months after gene transfer. Many of the above tests will be repeated. Participants will discuss any side effects. - Visits 14-17 will occur yearly between years 2 and 5. - After year 5, participants will be contacted yearly by phone for up to 15 years.
This study will explore the causes and eye problems of X-linked juvenile retinoschisis (XLRS), an inherited disease that causes vision loss primarily in young males. The vision loss, which worsens over time, is a result of schisis, or splitting, of the layers of the retina (tissue that lines the back of the eye). A better understanding of why and how XLRS develops might lead to improved treatments. Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease (such as the mother of the patient) may be eligible for this study. Other family members of patients also may be enrolled. Patients will undergo the following tests and procedures: - Personal and family medical history to review past and current medical conditions and treatments, particularly regarding eye disease, and to construct a family tree. - Eye examination to assess visual acuity (eye chart test) and examine pupils, lens, retina, and eye movements. The pupils will be dilated with drops for this examination. - Photography of the retina to help evaluate the status of the retina. - Specialized eye tests to evaluate color vision, field of vision, and ability to see in the dark. - Electroretinogram (ERG) to examine what happens to the eyes after a flash of bright light. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small silver disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes. The patient looks inside a large empty bowl and then a light flashes, first in the dark and then with a light turned on inside the bowl. The contact lenses sense small electrical signals generated by the retina when the light flashes. - Blood test to examine DNA for genetic study of XLRS. Family members will provide a blood sample for genetic study. ...