Aniridia

Researchers are evaluating the first use of a new imaging technology called 4D Microscope Integrated Optical Coherence Tomography (4D MIOCT) combined with a Zeiss Artevo 800 surgical microscope during eye surgeries. This study focuses on adult patients undergoing clinically indicated surgery for various eye diseases, aiming to assess how easy the system is to use, its safety, and how well it visualizes the eye's structures during both front and back segment procedures. The study involves using the investigational 4D MIOCT device integrated into the Zeiss Artevo 800 microscope to capture detailed images of the eye during surgery. This imaging is performed in the operating room as part of the standard surgical care, with no additional treatment or interventions added. Up to eight patients may be enrolled, and images will be taken of one or both eyes during surgery to observe normal and abnormal microanatomy, as well as track any injections under the retina. Participants will have their eye imaged during surgery, and researchers will collect related clinical data and previous eye care records for comparison. The images and data will be analyzed after surgery to explore new details captured by the 4D MIOCT system. Researchers will measure ease of use, surgical workflow impact, and the presence of normal and abnormal microanatomy based on the images. There is no extra risk beyond the usual surgery, and no new medications or procedures will be performed solely for research purposes.

This research aims to evaluate the effectiveness of Brief Cognitive Behavioral Therapy delivered via telehealth in reducing suicidal thoughts and attempts among people with physical disabilities. The study focuses on individuals who have experienced suicidal ideation recently or have attempted suicide within the past month. It is designed to better understand how this non-medication therapy works for people with vision, hearing, or mobility impairments. Participants will receive 12 sessions of Brief Cognitive Behavioral Therapy, specifically adapted for those with physical disabilities. These sessions are conducted remotely through telehealth, allowing participants to engage from their own location. The therapy schedule typically spans around three months. Throughout the study, researchers will measure changes in suicidal thoughts weekly using a specialized scale and assess self-injurious behaviors during the treatment period. Participants will be evaluated regularly to monitor progress and safety. The total study duration includes treatment completion, with ongoing assessments during this time to understand the therapy's impact.

Researchers are studying the healing and anti-fibrotic effects of two blood-derived products, autologous serum and growth factor-rich plasma, on corneal cells from patients with aniridia compared to healthy controls. Aniridia causes abnormal corneal healing leading to scarring and clouding, and while autologous serum aids healing, it does not prevent fibrosis. This study aims to compare these two products' effects in the lab, examining their potential to reduce fibrosis markers. Participants include patients with aniridia and healthy controls. Blood samples are collected from all participants, with half used to prepare autologous serum and the other half to prepare growth factor-rich plasma for laboratory testing. Additionally, a conjunctival impression, a minimally invasive procedure collecting superficial eye surface cells, is performed at enrollment for biological analysis. Participants will have blood drawn and conjunctival samples collected at the start. Researchers will compare how the blood products affect corneal cell healing and fibrosis markers in vitro. The study monitors these laboratory outcomes to understand differences between aniridia patients and controls. The total participation involves these baseline collections and laboratory evaluations without further interventions or treatments.

Congenital aniridia is a rare genetic eye condition characterized by a partial or complete absence of the iris. It affects multiple parts of the eye and can include glaucoma, cataracts, corneal scarring with new blood vessel growth, foveal underdevelopment with eye movement issues, and optic nerve underdevelopment. The disease varies widely among individuals and can also be linked to severe systemic syndromes. This study aims to identify both eye and systemic symptoms in people with congenital aniridia and assess their understanding of the condition through a one-time survey. Participants will complete a survey created by ophthalmologists at a specialized hospital center. The survey is designed to collect information on the manifestations of congenital aniridia and the patients' or their parents' knowledge about the disease. Adult patients who can answer independently and children whose parents can respond for them are included. The survey is completed once per participant. During the study, researchers will collect data from the survey responses to evaluate eye and systemic signs of the disease, patient autonomy, and knowledge of their condition. The main outcome is the identification of ocular and systemic manifestations over 24 months. Secondary outcomes include understanding patient and parental knowledge and factors affecting this knowledge. Participation involves just one survey completion, with no additional treatments or procedures.

Researchers are conducting the Hamburg City Health Study (HCHS), a large, long-term research project involving a population-based group from Hamburg, Germany. The study aims to gain extensive knowledge about risk and prognostic factors for major chronic diseases such as coronary heart disease, stroke, dementia, cancer, vascular diseases, periodontal diseases, ocular diseases, respiratory disease, and obesity. The study will help develop complex models to predict health outcomes based on a variety of examination, imaging, and behavioral data. A random sample of 45,000 participants aged 45 to 74 years from Hamburg will undergo a detailed baseline assessment at a specialized study center. This includes 13 validated and 5 novel examinations focusing on heart, blood vessel, and brain function and structure, with extensive imaging tests. Participants also complete questionnaires about lifestyle, environment, diet, physical activity, work, psychosocial context, digital media use, medical and family history, and health care use. Genomic and proteomic analyses are also performed. Those identified at risk for conditions like coronary artery disease, atrial fibrillation, heart failure, stroke, or dementia will be invited for additional MRI scans of the heart or brain. Participants will be followed over time with yearly self-reported health updates for up to 12 years. Follow-up exams and data from health and pension insurances will be used to assess outcomes. The study involves no treatments but focuses on observing health changes and risk factor development. The total participation includes baseline assessments, possible additional imaging, and repeated follow-ups to monitor health status and disease progression.

Researchers are studying children diagnosed with Microphthalmia, Anophthalmia, and Coloboma (MAC), which are congenital eye defects affecting eye size and structure. The study aims to understand the physical traits of these conditions and how genetic changes contribute to the risk of developing MAC. The overall goal is to improve prevention and clinical care for affected children. Participants include children diagnosed with MAC, their parents, and siblings. The study collects detailed physical and genetic information by collaborating with various registries and hospitals. Researchers use resources from newborn screening programs and specialized NIH centers to identify and analyze genetic variants linked to MAC. Families involved in the study will provide data through medical evaluations and genetic testing. The research team will review physical characteristics and genetic information to better define MAC and its genetic causes. This observational study is ongoing, and participants may be followed until the study ends in 2032, with no interventions or treatments required.

This research focuses on congenital malformations of the eye, including microphthalmia, anophthalmia, aniridia, and anterior segment dysgenesis such as Peters and Axenfeld-Rieger anomalies. These conditions often come with extra-ocular features and intellectual disability, but much is still unknown about their visual outcomes and neurological effects. The study aims to include a range of malformations considered part of a phenotypic continuum and to follow affected children for 10 years to better understand their eye and neurological development, as well as other medical events. Researchers also want to identify factors linked to better or worse visual and neurological outcomes. The study is observational and will include both retrospective and prospective data collection. It involves children and adults with congenital eye defects. Participants will undergo various eye examinations such as visual acuity tests with refraction under cycloplegia, binocular vision assessments by orthoptists, slit lamp and fundus exams, ultrasound measurements of eyeball length, and several ocular imaging techniques like videotopography, ultrabiomicroscopy, and macular optical coherence tomography. Neurological evaluations will also be performed using standard procedures appropriate for age. These assessments will occur over multiple visits depending on the participant's age. Participants will be monitored through scheduled visits with up to three visits for children under 6 years, two visits for children aged 6 to under 8 years, and one visit for those 8 years and older. During these visits, visual and neurological functions will be carefully evaluated alongside questionnaires on quality of life and presence of extraocular malformations. The study aims to improve understanding of these rare conditions to enhance patient management and care over time.

Researchers are studying inherited eye diseases by expanding the eyeGENE program, a research resource that collects genetic and clinical information from people with various rare eye conditions. This effort aims to increase the number of participants with specific eye diseases such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and pigmentation disorders like albinism. The goal is to enhance understanding of the genetic causes and improve recruitment for future clinical trials. Participants with inherited eye diseases or their close relatives will provide saliva samples using mailed kits with instructions, and some may also provide blood samples collected locally or at the NIH. The study will gather detailed data including eye images, genetic test results, and health history, which will be stored in the eyeGENE data repository for use by researchers. This is an observational study without investigational treatments. During the study, participants will provide genetic samples and clinical data, which may include eye exam images and test results. Researchers will analyze the data to find links between genetic changes and eye disease features over the 30-year study period. Personal information like names and contact details will be kept confidential. This long-term study allows researchers to better understand rare eye diseases and support future research and clinical trials.

Visual impairments can greatly reduce quality of life, making early screening, diagnosis, and treatment of eye diseases critical to prevent vision loss. This research aims to develop an AI-assisted medical decision support system that combines multiple types of patient data, including imaging and electronic medical records, using deep learning methods. The goal is to improve diagnosis accuracy, personalize treatment, and enhance outcomes for patients with ocular diseases. The study compares two groups: one receiving AI-assisted medical decision-making that uses integrated multimodal data, and another receiving traditional decision-making by physicians without AI support. Patients in both groups undergo standard ophthalmic exams. The AI system will provide recommendations to guide treatment and diagnosis in the intervention group, while the control group relies on physician judgment alone. Participants will be evaluated over two years with assessments including imaging, lab tests, and follow-up visits. Researchers will measure diagnostic accuracy through metrics like sensitivity, specificity, and false positive/negative rates, as well as patient satisfaction, system usability, and treatment adherence. Safety outcomes such as complication and recurrence rates will also be monitored, aiming to streamline clinical workflow and improve quality of life for those with eye diseases.

Visual impairments greatly impact quality of life, making early screening, diagnosis, and treatment of eye diseases essential. This research evaluates an AI-assisted medical decision support system that combines various types of patient data, including images and electronic health records, to improve diagnosis and treatment planning for ocular diseases. The study aims to enhance diagnostic accuracy, streamline clinical workflows, and offer personalized treatment options to improve patient outcomes. The study uses an AI system that integrates multimodal data such as fundus photos, OCT scans, and clinical records. This AI model employs deep learning to provide real-time, personalized diagnostic and prognostic support, predicting disease progression and treatment results. The evaluation involves patients both with and without ocular diseases from multiple medical centers, using retrospective data collected from their electronic health records. Participants have previously received treatment at several hospitals, and their records include ophthalmic images, medical notes, and examination results. Researchers will analyze these data to assess the AI system's diagnostic accuracy, sensitivity, specificity, and decision-making effectiveness over one year. They will also monitor system usability, user satisfaction, treatment adherence, and physician acceptance, aiming to improve clinical decision-making and patient care through this technology.