Active clinical trials for "Retinitis"

This study "A Long-Term Follow-Up Study in Subjects Who Received an Adeno-Associated Viral Vector Serotype 2 Containing the Multi-Characteristic Opsin Gene (vMCO-I) Administered Via Intravitreal Injection" is an observational study and will be conducted following Good Clinical Practice (GCP)- International Conference on Harmonization (ICH) guidelines. Eligible subjects satisfying all inclusion and none of the exclusion criteria will be enrolled. All subject who completed the parent clinical study (NSCT/CT/18/01) will undergo safety and efficacy assessments up to 5 years post study drug injection

The objective of the study is to collect adaptive optics (AO) retinal images from human subjects with outer retinal diseases (diseases of the outer retina including photoreceptor, retinal pigment epithelium (RPE), basement membrane or choroidal pathologies) to develop new diagnostic methods, biomarkers, and clinical endpoints.

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 purpose of the study is to identify a cohort of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in the retinitis pigmentosa GTPase regulator (RPGR) gene and to investigate their associated phenotype.

Rare ocular diseases (ROD) are a heterogeneous group of ocular diseases that affect very few people and, generally, for which no tretament is available. An important subgroup of these diseases are inherited retinal degenerations. In this study we focus on understanding the natural history of different ROD that affect the posterior segment.

Background: - Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers. Objectives: - To collect hair, skin, and blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Eligibility: Individuals affected with ocular condition is one year of age or older. Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older. Unaffected individuals are seven years of age or older. Design: The study requires one visit to the National Eye Institute. Participants will be screened with a medical and eye disease history. They will also have an eye exam. Participants will provide a hair sample, a blood sample, and a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.

Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Despite the advances in molecular identification of genes causing disease, unsolved IRDs constitute about 40% of all cases. Goal of this study is to solve missing heritability in IRD using whole genome sequencing (WGS) to identify the genetic causes in clinically well-characterized patients without a molecular diagnosis. The identification of novel genes that have a role in the development or maintenance of retinal function will lead to the development of new therapeutic approaches and will favour a more prompt diagnosis and improvement of patient management.

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.

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 Genotype Characterization Cross-Sectional Phenotype Characterization (within gene) Establish a Link to My Retina Tracker Registry (MRTR) Ancillary Exploratory Studies - Pooling of Genes Natural History Study Objectives Natural History (within gene) Structure-Function Relationship (within gene) Risk Factors for Progression (within gene) Ancillary Exploratory Studies - Pooling of Genes