Leber congenital amaurosis with early-onset deafness

This study tested an artificial intelligence (AI) system called Retina4IRD that helps doctors diagnose inherited retinal diseases, which are rare eye conditions that can cause vision loss. The AI looks at eye images and patient information to suggest which gene might be causing t…

This study tested whether playing slow tempo music before and during an eye injection (intravitreal injection) can reduce anxiety and pain. 144 adults took part, with half listening to music and the other half receiving standard care. Researchers measured anxiety using saliva tes…

This trial tests a new device called P200TxE that takes detailed images of the back of the eye. Researchers want to see how well it captures images in people with retinal diseases like glaucoma or macular degeneration. The study involves adults aged 22 and older who have been dia…

This study tested whether artificial intelligence (AI) can help doctors detect retinal diseases from ultra-widefield eye images. 462 images were read by four eye doctors with different experience levels, both with and without AI assistance. The goal was to see if AI improves accu…

This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…

This study tested a new type of camera that can see individual cells in the retina, which standard clinical cameras cannot do. Five people with retinal disease (inherited degeneration or toxicity) had their eyes scanned with the device. The goal was to compare image quality and o…

This study collected information from nearly 1,000 people in France with inherited retinal diseases (IRDs) to better understand the genetics behind these conditions. Researchers looked at genetic test results and disease types to help build a national registry. The goal is to imp…