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.
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(R)) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE(R) is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. This study collects DNA samples from patients with inherited eye diseases to facilitate research to identify genetic factors responsible for these conditions. Nearly 500 genes that contribute to inherited eye diseases have been identified. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable. 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 biorepository. 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 are available to researchers along with information about the patient's disease, but without patient identifiers.