Aniridia

This study follows 800 children born with eye malformations like microphthalmia, anophthalmia, aniridia, or anterior segment defects. Researchers will track their vision, brain development, and overall health for up to 10 years to better predict outcomes. No new treatments are be…

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study uses a one-time survey to learn about the eye and body symptoms of people with congenital aniridia, a rare genetic condition that affects the iris. Researchers want to see how much patients understand about their own disease. About 100 patients of all ages will take pa…

This study takes skin or blood cells from 20 people with eye malformations and turns them into stem cells, which are then grown into tiny 3D eye-like structures (organoids) in a dish. Researchers will study these mini eyes to understand what goes wrong during development and test…

This study looks at two treatments made from patients' own blood—autologous serum and growth factor-rich plasma—to see which helps heal the cornea better in people with aniridia, a rare eye condition. Researchers will test these treatments on corneal cells in the lab, using blood…