Active clinical trials for "Retinitis Pigmentosa"

This study is aimed to characterize Russian population of Usher patients.

To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.

This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. Patients with type 2 disease generally are hearing impaired but have no balance problems. Patients with type 3 disease have progressive hearing loss and balance problems. All patients develop retinitis pigmentosa, an eye disease that causes poor night vision and eventually, blindness. Patients of any age with Usher syndrome may be eligible for this study. Patients who have had eye and hearing evaluations are asked to send their medical records to the research team at the National Eye Institute (NEI) for review. They are also asked to have a blood sample drawn by a medical professional and sent to NEI for genetic analysis. Finally, they are interviewed about their family histories, particularly about other relative with eye disease. Patients who have not been evaluated previously have the following tests and procedures at NIH: Family medical history, especially regarding eye disease. A family tree is drawn. Blood draw for genetic studies of Usher syndrome. Eye examination to assess visual acuity and eye pressure, and to examine pupils, lens, retina, and eye movements. Electroretinogram (ERG) to test the function of visual cells. Wearing eye patches, the patient sits in a dark room for 30 minutes. Electrodes are taped to the forehead and 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 hollow, dark globe and sees a series of light flashes. Then a light is turned on inside the globe and more flashes appear. The contact lenses sense small electrical signals generated by the retina when the light flashes. Fluorescein angiography to evaluate the eye's blood vessels. A yellow dye is injected into an arm vein and travels to the blood vessels in the eyes. Pictures of the retina are taken using a camera that flashes a blue light into the eye. The pictures show if any dye has leaked from the vessels into the retina, indicating possible blood vessel abnormality. Hearing tests to help determine the patient's type of Usher syndrome. Tests to evaluate hearing include examination of both ears with an otoscope, evaluation of the middle ear and inner ear, and hearing tests using earphones that deliver tones and words the subject listens and responds to. Vestibular testing for balance function. Balance testing involves three procedures: Videonystagmography: This test records eye movements with little cameras. First the patient follows the movements of some small lights. Next, while wearing goggles, the patient lies on an exam table and turns to the right and left. Lastly, a soft stream of air is blown into the patient's ears four times, once in each ear with cool air and once in each ear with warm air. Rotary chair test: With electrodes placed on the forehead, the patient sits in a rotary chair in a dark room. Several red lights appear on the wall of the room and the patient follows the lights as they move back and forth. Then the chair turns at several speeds, all slower than a merry-go-round. Vestibular evoked potential: Electrodes are placed behind the patient's ear and at the base of the neck. Seated in a reclining chair and wearing earphones, the patient hears a brief series of loud clicking sounds. When the sounds are on, the patient is asked to lift his or her head up a few inches from the chair. The electrodes record information from the muscles in the neck as the sounds enter the ear.

Knowledge of the pathogenesis of ocular conditions, a leading cause of blindness, has benefited greatly from recent advances in ophthalmic imaging. However, current clinical imaging systems are limited in resolution, speed, or access to certain structures of the eye. The use of a high-resolution imaging system improves the resolution of ophthalmoscopes by several orders of magnitude, allowing the visualization of many microstructures of the eye: photoreceptors, vessels, nerve bundles in the retina, cells and nerves in the cornea. The use of a high-speed acquisition imaging system makes it possible to detect functional measurements such as the speed of blood flow. The combination of data from multiple imaging systems to obtain multimodal information is of great importance for improving the understanding of structural changes in the eye during a disease. The purpose of this project is to observe structures that are not detectable with routinely used systems.

The Argus II Retinal Implant is a revolutionary new device, which offers vision to patients who are blind from retinal degeneration - retinitis pigmentosa. These patients have no alternatives. Patients typically can achieve ambulatory vision.

Using local immune suppression, the trial seeks evidence for the hypothesis that autoimmunity plays a role in the pathomechanism of retinitis pigmentosa.

Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and loci reported to date. However, in approximately 40% of patients the underlying genetic causes are yet to be found. The current study aims to identify causative RP genes and mutations in Israeli families of various ethnic backgrounds. Identification of such genes will contribute significantly to disease prevention (by identification of high risk families and appropriate genetic counseling) and to the investigators understanding of retinal structure and function and of the etiology of RP.

This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.

Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention. Methodology: This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.

To communicate with the observer and guide his gaze on the canvas, painters have developed different stylistic processes that artists, in the manner of scientists, have acquired on the functioning of human visual perception. This direct communication between the artist and the observer is strongly impacted for people with visual impairments. In order to improve the accessibility and autonomy of visually impaired people in museums and to allow each observer to feel the visual and emotional experience closest to the original work of the artist, it is essential to identify the modifications. perceptive generated by the constriction of vision