View clinical trials related to Inherited Retinal Degeneration.
Filter by:This is an international, multicenter study with two components: Registry - A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection - Enrollment is open to all genes on the RD Rare Gene List Natural History Study - A prospective, standardized, longitudinal Natural History Study - Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows. Registry Objectives 1. Genotype Characterization 2. Cross-Sectional Phenotype Characterization (within gene) 3. Establish a Link to My Retina Tracker Registry (MRTR) 4. Ancillary Exploratory Studies - Pooling of Genes Natural History Study Objectives 1. Natural History (within gene) 2. Structure-Function Relationship (within gene) 3. Risk Factors for Progression (within gene) 4. Ancillary Exploratory Studies - Pooling of Genes
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.
Background: - The purpose of this study is to find out whether color vision measured with the Cambridge Color Test is a good way to examine the severity of inherited retinal diseases (IRDs). IRDs are a major cause of vision loss worldwide, but very little is known about how the diseases affect color vision over time. This study will tell us if color vision may be used to track changes in inherited retinal diseases over time. Objectives: - To improve understanding of color vision as a way to measure changes in inherited retinal diseases. Eligibility: - People 5 years of age or older who have an IRD. - Healthy volunteers at least 5 years of age. Design: - Participants will make at least one visit to the National Eye Institute clinic. If they sign up for more tests, they may have up to three visits to the NEI clinic. - Participants will be asked questions about their medical and eye history. - Participants will be given an eye exam, including eye drops to dilate their pupils. They will take the Cambridge Color Test, which includes looking at a monitor and pressing a button, and arranging colored circles. Several other tests may be offered, but participants can decline to take them. - Treatment will not be provided as part of this study.