View clinical trials related to Retinitis Pigmentosa.Filter by:
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (> 190). The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes (https://sph.uth.edu/retnet/). This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes. The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP. The secondary purposes will be the following: - Determining the diagnostic yield - Study the genotype-phenotype correlation. The secondary purposes will be the following: - Determining the diagnostic yield - Study the genotype-phenotype correlation
The purpose of this study is to evaluate the effect of L-Dopa on the progression of retinitis pigmentosa.
Purpose: Cystoid macular edema (CME) in retinitis pigmentosa (RP) has been managed in several ways with little success. The aim of our study was to report the use of intravitreal dexamethasone implant in a large series of patients with RP and CME. Setting: Retrospective case series. Methods: Cases were diagnosed as RP based on the classic fundus triad of bone-spicule pigment deposits (intraretinal pigmentary migration), retinal vessel attenuation, waxy pallor of the optic disc along with night blindness and attenuated ERG amplitudes (delays in rod or cone b-wave implicit times). Family history of RP and family screening for RP were important in establishing the diagnosis in eyes with some diagnostic challenge. CME was diagnosed by intravitreous fluorescein angiography IVFA and spectral domain optical coherence tomography (SD-OCT). BCVA was monitored using Snellen visual acuity chart and CME was monitored by SD-OCT on follow-up visits.
Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. This study aims for a detailed clinical characterization of patients with PDE6A mutations in preparation of a clinical gene replacement study (phase I/II safety trial).
The aim of this single-centre study is to assess the safety and efficacy of the Retina Implant Alpha AMS (Retina Implant AG, Reutlingen, Germany) in participants with severe visual impairment secondary to outer retinal degeneration caused by retinitis pigmentosa (RP). The study is sponsored by the University of Oxford and funded by the National Institute for Health Research (UK).
A single arm, single center trial to evaluate the safety and efficacy of autologous purified populations of bone-marrow derived stem cells in patients with Retinitis Pigmentosa (BM-SCs) through a 48 month follow up period.
This study evaluates the safety and effectiveness of the Intelligent Retinal Implants System (IRIS V2). Blind patient suffering from Retinitis Pigmentosa, Cone Rod Dystrophy, or Choroideremia are implanted with an Intelligent Retinal Implant Systeme. All subjects undergo ophthalmological examinations in predefined intervals after implantation. Ophthalmological examinations include funduscopy, slit lamp examination and OCT. All adverse events are recorded and analyzed. Efficacy is measured using functional vision and visual function tests before and after implantation as well as with the system on and system off.
The purpose of this study is to assess the safety and efficacy of intravitreal injections of Aflibercept (Eylea) in treating Cystoid Macula Oedema (CMO) in patients with underlying Retinitis Pigmentosa (RP).
Background: Retinal diseases cause the loss of rod and cone photoreceptors. Symptoms include vision loss and night blindness. Researchers want to learn about rod and cone function in healthy people and people with retinal disease. They want to know if how well a person sees in the dark can test the severity of retinal disease. Objectives: To find out if how well a person sees in the dark can test the severity of retinal disease. To find out if this can help detect retinal disease and track its changes. Eligibility: People ages 5 and older with: Retinal disease OR 20/20 vision or better with or without correction in at least one eye Design: Participants will be screened with medical and eye history and eye exam. Those with retinal disease will also have: Eye imaging: Drops dilate the eye and pictures are taken of it. Visual field testing: Participants look into a bowl and press a button when they see light. Electroretinogram (ERG): An electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then they get numbing drops and contact lenses. Participants watch lights while retina signals are recorded. Visit 1 will be 3 8 hours. Participants will have up to 6 more visits over 6 12 months. Visits include: Eye exam and imaging Time course of dark adaptation: Participants view a background light for 5 minutes then push a button when they see colored light. Dark adapted sensitivity: Participants sit in the dark for 45 minutes. They push a button when they see colored light. For participants with retinal disease, ERG and visual field testing
The main objective of this study is to quantify vision parameters in subjects with concentric visual field constriction, and this in relation to the display on virtual reality goggles. More specifically: - The maximum brightness value for visual comfort (THRESHOLD_MAX) - The minimum value of the perceptible light contrast in low light perceptible (THRESHOLD_MIN) - The speed of light change adaptation in the range [THRESHOLD_MAX-THRESHOLD_MIN] and [THRESHOLD_MIN-THRESHOLD_MAX].