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 eyes 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 therapys 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.

Researchers are studying congenital malformations of the eye, which include developmental defects like microphthalmia, anophthalmia, aniridia, and various anterior segment abnormalities. These conditions may affect one or both eyes and often come with extra-ocular features and intellectual disabilities. The study aims to improve understanding of visual and neurological outcomes over a 10-year follow-up, identifying factors related to better or worse prognosis and improving patient care. This observational study includes children and adults with these eye malformations. The study involves detailed eye examinations such as visual acuity tests, binocular vision assessments, slit lamp and fundus exams, ultrasound measurements, and advanced imaging techniques like OCT. Neurological evaluations are also performed. Patients will be assessed up to three times depending on their age and condition. Participants will undergo various evaluations including quality of life questionnaires and monitoring of ocular and extraocular malformations. Visual and neurological functions will be tracked over multiple visits. The study collects comprehensive data to help predict disease progression and improve management. The total duration can extend up to 10 years with periodic assessments according to patient age.

Researchers are expanding the eyeGENE program, a research resource focused on inherited eye diseases such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and disorders of pigmentation including albinism. This program collects genetic and clinical data to help understand the genetic causes of these conditions and support the development of better treatments. The study aims to gather more participants with these rare eye diseases and their unaffected close relatives. Participants provide saliva samples using a kit sent to them, which they mail back for DNA analysis. Some may also be asked to provide blood samples, collected either at the National Eye Institute or a local clinic. The study collects phenotypic information, genetic testing results, and eye images, which are stored in the eyeGENE data repository and shared anonymously with researchers studying inherited eye diseases. During the study, participants will contribute data including eye exam results and medical history, with personal identifiers removed to protect privacy. Researchers will use this information to expand the eyeGENE data repository over 30 years, enhance recruitment for clinical trials, and study the relationship between genetics and symptoms for rare eye diseases. Participation involves sample collection and data sharing, with safety monitored throughout the study period.

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 positivenegative 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 systems 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.