View clinical trials related to Inherited Ophthalmic Diseases.
Filter by:Background: - People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss. The medicine interferon gamma-1b may help people with these diseases. Objectives: - To see if interferon gamma-1b eyedrops are safe for people with RCD or ESCS. To see if the medicine can decrease retina fluid and help prevent vision loss. Eligibility: - People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene. Design: - Participants will be screened with medical history, physical exam, eye exam, and blood tests. - Participants will stay at NIH for 3 days and get the first eyedrops. - Participants will give themselves 4 study eyedrops 4 times daily for 2 weeks and keep a diary. - Participants will have 5 outpatient visits over 8 weeks, 2 of which are telephone assessments. They may have: - Repeats of screening tests. - Questionnaires. - Small piece of skin removed. - Eye exams, including eye dilation and tasks on computer screens. - Fluorescein angiography. A dye injected into an arm vein will travel to the blood vessels in the eyes. A camera will take pictures. - Electroretinography. Participants will sit in the dark wearing eyepatches. A small electrode will be taped to the forehead. After 30 minutes, researchers will remove the eyepatches and put in numbing eyedrops and contact lenses. Participants will watch flashing lights. - Electrooculography. Electrodes will be attached outside of the eyes and eye function will be measured in the dark and the light. - Participants will have a follow-up visit after 52 weeks.