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The purpose of this study is to understand if combining Low Vision Rehabilitation (LVR) with Emotional Regulation Therapy (ERT) can help people with inherited retinal diseases (IRDs) that experience emotional distress related to participants' vision loss. The study team hypothesize that treatment with LVR will produce measurable functional gains and that these effects will be enhanced by ERT-linked improvement among the subgroup of IRD patients with elevated vision-related anxiety.
This study is an open-label, single ascending dose clinical trial in participants who have ABCA4-related retinopathies. This is the first-in-human clinical trial in which ACDN-01 will be evaluated for safety, tolerability, and preliminary efficacy following a single subretinal injection of ACDN-01.
The goal of this research study is to compare two ultrawide field cameras to the gold standard imaging system to evaluate the back of the eye. The main question it aims to answer is the same results and information can be acquired from all of the cameras for evaluating and monitoring inherited retinal diseases (IRDs). Participants will: * undergo pupillary dilation * have photographs taken of the inside of the eyes using three different cameras
Current clinical cameras do not allow clinicians to see the cells of the retina. This study will evaluate a new electronic camera's ability to image the human retina in finer detail.
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: ABCA4 retinopathy is a genetic disease in which the ABCA4 protein is absent or faulty. It can cause waste material to collect in the eye and may cause cells to die. The cell death can lead to vision loss. Researchers want to see if an oral drug called metformin can help. Objective: To see if metformin is safe and possibly helps to slow the rate of ABCA4 retinopathy. Eligibility: People age 12 and older who have ABCA4 retinopathy and have problems with their vision. Design: Participants will be screened under a separate protocol. Participants will have a medical and family history. They will complete a questionnaire about their vision and daily activities. They will have a physical exam. They may have blood drawn through a needle in the arm. Participants will have an eye exam. Their pupils may be dilated with eye drops. Their retina may be photographed. Participants will have a visual field test. They will sit in front of a large dome and press a button when they see a light within the dome. Participants will have an electroretinogram. It examines the function of the retina. They will sit in the dark for 30 minutes. Then their eyes will be numbed with eye drops. They will wear contact lenses that can sense signals from the retinas. They will watch flashing lights. Participants will have optical coherence tomography. This non-invasive procedure makes pictures of the retina. Participants will have fundus autofluorescence. A bright blue light will be shone into their eye. Participants will take metformin by mouth for 24 months. Participants will have study visits every 6 months. Participation will last for at least 36 months....
Background: The retina is a thin layer of tissue at the back of the eye. Retinal disease usually reduces a person s mobility because it affects how he or she moves through familiar and unfamiliar environments. Researchers want to see if a virtual reality (VR) tool can provide an easier and more accurate way to assess mobility. Objective: To learn if researchers can track changes in mobility in people with retinal disease using a new VR tool. Eligibility: People aged 5 and older with retinal disease that affects their vision, and healthy volunteers. Design: Participants will have 2-3 clinic visits. Participants will wear goggles or sit in front of a screen while sitting. Using a game controller, they will navigate through 4 obstacle courses presented in VR. Participants will have a medical history exam. They will answer questions about their family history. They will fill out questionnaires about the vision and mobility issues they have in their daily lives. Participants will have a complete eye exam. They will read letters from a chart. Their eye pressure will be measured. Their pupils may be dilated with eye drops. Pictures of their eye will be taken. Lights will be shined in their eyes. Participants will take a visual field test. For this, they will look into a dome and press a button when they see a light. Participants will have an electroretinogram. For this, they will sit in the dark with their eyes patched. Then their eyes will be numbed with eye drops and they will wear contact lenses while watching flashing lights. Participants will have optical coherence tomography. This is a noninvasive procedure. It produces cross-sectional pictures of the retina....
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 ...
Background: \- 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 at least 2 years of 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.
In this pivotal trial, we aim to perform a prospective study to find the efficacy of iPredict-DR, an artificial intelligence (AI) based software tool on early diagnosis of Diabetic Retinopathy (DR) in the primary care and endocrinology clinics. DR is one of the leading causes of blindness in the United States and other developed countries. Every individual with diabetes is at risk of DR. It does not show any symptoms until the disease is progressed to advanced stages. If the disease is caught at an early stage, it can be prevented, managed, or treated effectively. Currently, screening for DR is done by the Ophthalmologists, which is limited to areas with limited availability. This is also time-consuming and expensive. All of these can be complemented by automated screening and set up the screening in the primary care clinics.