Active clinical trials for "Retinitis Pigmentosa"

Hearing loss and loss of vision can be very harmful to the well-being and life of people who suffer from them. Usher syndrome is the name of a disease where people have both hearing loss and visual loss. In fact more than half of people who are deaf and blind have Usher syndrome. In this study we are trying to find the causes of all types of Usher syndrome and to learn more about how the eyes and ears work. Usher syndrome is caused by changes in our genes that lead to mistakes in the functioning of our eyes and ears. We may conduct hearing tests called audiograms to test hearing and a vision test called an electroretinogram (ERG) to test how well the retina (the part of your eye that senses light) is working on participants in the study. From these tests we can tell what kind of Usher syndrome a participant may have. We will then get DNA from participants by drawing blood. The DNA will be studied, along with DNA from members of the participant's family and other families, to try to find the gene that is causing Usher syndrome in the participant. Once the gene is found we will be able to study it to learn more about how the eyes and ears work. If a subject has already been diagnosed we may just need copies of their medical records and blood can be drawn locally. In order to increase the power of the study and the likelihood of detecting relevant genes participants will be taken from the Ashkenazi Jewish population group only. This will make it much easier to find the genes.

The objective of this study is to develop the comprehensive visual function evaluation method in severe visually impaired patient

The purpose of this study is to evaluate incidence and prevalence rates of the study endpoints (pigmentary maculopathy [PM]/ pigmentary retinopathy [PR]/Any, PM/PR/ pentosan polysulfate sodium [PPS], and PM/PR/Non-PPS) in relation to PPS exposure, and in participants with interstitial cystitis (IC) but not exposed to PPS; changes in visual acuity (VA) over time; participant treatment journey leading to PPS treatment, and potential risk factors associated with the occurrence of PM/PR/PPS.

Retinitis pigmentosa (RP) patients experience a slowly progressive, unpredictable loss of vision which eventually leads to bare or no light perception, posing a continuous threat to patients' independence. Negative psychological states such as distress, sleepiness, anxiety and depression are common in RP patients due to the nature of this chronic, disabling disease. Psychophysical vision measures are more variable in legally blind RP subjects than in normally sighted individuals, and RP patients indicate that variations in vision are often related to stress. The primary goal of this research is to examine the vision fluctuations within and between days among RP patients using vision tests self-administered by patients through their home computers, and determine associations with factors such as perceived stress, mood states, sleepiness, or light exposure. The administration of questionnaires will allow us to gain some insight into which underlying psychological factors impact certain vision measures, allowing the design of future interventional research to attempt to reduce such factors. The aims of many future treatment clinical trials for RP will be to improve vision and/or reduce the rate of vision loss; thus the sources that lead to increased variability of vision need to be identified and alleviated to enable precise evaluation of interventions and improve patients' quality of life.

This study will evaluate potential candidates for future clinical research studies related to diagnosed or undiagnosed genetic eye disorders or diseases. It will not test any new treatments, but it may arrange for standard treatments for existing eye disorders. The purpose of the study is to train eye doctors and medical researchers at the National Institutes of Health in appropriate methods and procedures for treating patients with genetic eye diseases, and to expand the pool of possible participants for future research studies and trials on eye health. Volunteers for this study may be adults and minor children who have been diagnosed with or are at risk for having a genetic eye disease. Candidates may not have any other medical conditions that would interfere with the researchers' ability to perform the examinations and procedures required for this study. Participants will give a complete medical and family history and undergo a series of tests and procedures as part of this research study. The procedures include a full eye examination and vision testing, electrooculography and an electroretinogram to examine the function of the retina, and flourescein angiography to provide information on the flow of blood in the participant's eyes. Participants will provide research material for further studies by giving a blood sample to be held for genetic testing and analysis, and adult participants will also undergo a skin biopsy to provide cell tissue for additional research material. At each clinic visit, participants will receive treatment for their genetic eye disease as needed, including medications or surgical procedures. Participants may remain a part of this study for up to three years.

The purpose of this investigation is to gain additional knowledge about what causes type 1 and type 2 Usher syndrome-inherited diseases that can cause balance problems and impaired hearing and vision-and to develop better diagnostic tests. 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. All patients develop eye problems that cause difficulty seeing in the dark. The development of newer and more sophisticated diagnostic tests may detect subtle differences in signs and symptoms that allow more accurate distinction between the two types of Usher syndrome. This study will use these tests to classify these syndromes and eventually identify the genes responsible for them. Study participants will have a medical and family history taken and a family tree constructed. They will undergo a thorough eye examination, including special tests of color vision, field of vision, and ability to see in the dark. An electroretinogram will be done to measure the function of cells in the retina, and a procedure called fluorescein angiography will be done to look at and photograph the blood vessels in the retina. Special hearing and balance tests will also done. Hearing tests include physical examination of the ears and wearing earphones while listening to tones. Balance and coordination tests require tasks such as walking in a straight line and standing in the dark with eyes closed. A caloric stimulation test will also be done, in which a small amount of water is irrigated into the ear canal. For gene studies, blood samples will be collected from patients and all available family members.

Retinopathy pigmentosa (which affects about 40,000 patients in France) leads to destruction of the peripheral retina. This condition, often familial, frequently affects young patients. Visual acuity is excellent for a long time, the disease affecting the central macular region only belatedly. On the other hand, the visual field is very quickly narrowed to a central or paracentral zone. For the patient, knowing the limits of his visual field and learning to adapt is necessary especially when traveling. The management of these patients is twofold: an orthoptist carries out an overall evaluation of the visual field using the Goldmann device (30 cm projection of the areas seen and not seen by the patient's eye), then performs rehabilitation over several weeks an instructor of locomotion (open specialization: occupational therapist, case of this project,...) carries out an evaluation in situation, followed by a personalized reeducation over several weeks. The first sessions consist in establishing a climate of confidence, presenting the objectives of the management of locomotion and begin to understand the movements inside and outside accompanied. The following of the rehabilitation is an apprenticeship of the optimal use of the residual field of vision and the proposed technical aids (white cane), in the whole of the displacements, inside and outside. The residual field of vision is evaluated by a device at the first appointment at the specialized center. This examination, necessary for the professional, is not informative for the patient. It is sometimes supplemented by the evaluation of the visual field of view (ECVS). The ECVS, done jointly by the orthoptist and the locomotion instructor, consists in evaluating the functional visual field on a horizontal plane at 1m (meter) and 5m, and vertical at 5m. The field of vision of the patient, immobile, is materialized by targets deposited at each limit of the zones seen that it indicates. The investigators believe that the passing of a visual field on the ground, thanks to the projection of the zones of vision, allows the patient to improve his knowledge on his visual possibilities (and gaps) and thus to make his reeducation more efficient.

The objective of this study is to develop the comprehensive visual function evaluation method in severe visually impaired patient.

Purpose: To study the associations between visual functions and the retinal tomography detected by optical coherence tomography (OCT) in patients with retinitis pigmentosa (RP). Study design: retrospective, non-randomized and non-comparable study Material: Medical recordings of the RP patients who visited the Out-Patient Department of Ophthalmology in NTUH during June, 2003 to June, 2008. Methods: By reviewing charts of the RP patients, the investigators will categorize RP patients into different types according to the loci of the pathological change in their retina evaluated by opththaomoscopy. And the investigators will collect the data of their visual functions including visual acuity, visual field, Arden ratio of electrooculography, and color sense discrimination. Then, according to the OCT map, the investigators will analyze the retinal thickness by dividing the macular area into foveal area, inner ring and outer ring. Finally, the investigators will analyze the relationships between visual functions and retinal thickness in different macular areas in different types of RP patients. Anticipated results: The investigators expect that retinal tomographies may different among different types of RP. And the retinal tomographic change may correspond to the change of a certain kind of visual function. Hence, according to the thickness of a specific area in macula, the investigators may anticipate that some visual dysfunction may exist.

A new fundus-guided microperimeter (MP-3S) has been developed by Nidek, Inc. to track the fundus of the patient and present stimuli in specific anatomically-defined locations. Furthermore, this tracking means that exactly the same locations can be tested on subsequent (follow-up) visits. The investigators will use a method called two-color perimetry to map rod and cone sensitivity on this device. With this technique, the sensitivity difference (blue-red) to chromatic test stimuli can be used to determine whether rods, cones or both photoreceptor systems mediate the threshold at a given location in the macula.