Function and Imaging Assessments for G1961E-associated Stargardt Disease
Stargardt DiseaseStargardt Disease 15 moreSome phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically.
Age-related Macular Degeneration (AMD) in the Vitamin D and Omega-3 Trial (VITAL)
Age-related Macular DegenerationThe VITamin D and OmegA-3 Trial (VITAL; NCT 01169259) is a randomized clinical trial in 25,875 U.S. men and women investigating whether taking daily dietary supplements of vitamin D3 (2000 IU) or omega-3 fatty acids (Omacor fish oil, 1 gram) reduces the risk of developing cancer, heart disease, and stroke in people who do not have a prior history of these illnesses. This ancillary study is being conducted among participants in VITAL and will examine whether vitamin D or omega-3 fatty acids, compared to placebo, reduce the incidence and/or progression of age-related macular degeneration (AMD).
National Eye Institute Biorepository for Retinal Diseases
Age-Related Macular DegenerationDiabetic Retinopathy3 moreBackground: - To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some people respond to treatment while others do not. Researchers want to collect physical samples and personal data to develop a National Eye Institute database. Objectives: - To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies. Eligibility: Individuals of any age with different types of eye disease. Healthy volunteers with no history of eye disease. Design: Participants may be recruited from National Eye Institute studies or may be referred from other sources. Participants will be screened with a physical exam and medical history. They will also have a full eye exam. Questions will be asked about family medical history, especially about eye disease. Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and urine, may be collected as needed. Adult participants may also provide a skin sample. Tissue or fluid from eye collected as part of eye care or treatment may also be added to the database. No treatment will be provided as part of this study.
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo...
Inherited Retinal DystrophyRetinitis Pigmentosa1 moreInherited 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.
Ocular, Vascular, and Genetic Findings in AMD Patients
Age-Related Macular DegenerationObservation of findings associated with AMD
Outcomes of Tolerating Subretinal Fluid in Type 1 MNV and PCV
Polypoidal Choroidal VasculopathyChoroidal Neovascularization1 moreThe purpose of the present study was to evaluate the outcomes of type 1 macular neovascularization (MNV), including polypoidal choroidal vasculopathy in patients treated tolerating subretinal fluid (SRF) using Aflibercept in a clinical setting. Approximately 150 patients are anticipated to be enrolled in this study. SRF is a primary type of fluid compartment prevalent in type 1 aneurysmal MNV. In a recent study, the prevalence of SRF during 24-month follow-up period was 36.7% to 38.8% in type 1 MNV and polypoidal choroidal vasculopathy (PCV), 20.0% in type 2 MNV, and 7.7% in type 3 MNV. In addition, patients with SRF showed better visual prognosis in type 1 MNV/PCV. For this reason, type 1 MNV is an appropriate candidate for evaluating the influence of tolerating SRF.
Clinical and Genetic Analyzes of Age-related Macular Degeneration
Macular DegenerationThe purpose of this collection is to search for susceptibility genes for age-related macular degeneration (AMD) alone or in combination with environmental factors and to look for genes that modulate the AMD phenotype (particularly the response to treatment).
High Resolution Retina Imaging
Retinitis PigmentosaMaculopathy7 moreTo increase the clinical experience of using the rtx1 camera in various retinal disorders and to follow the evolution of structural alterations during retinal diseases using adaptive optics imaging with the rtx1 camera
Deep Learning OCT and OCTA in NVC
Macular Degeneration Choroidal NeovascularizationTo evaluate the activity of neovascular macula degeneretion as assessed by SD-OCTand OCT-A using a split-person study design and deep-learning quantification.
Analysis of the Intestinal Microbiome in Patients With Wet Age-related Macular Degeneration
Age-Related Macular DegenerationAnalysis of the Intestinal Microbiome in Patients With Wet Age-related Macular Degeneration