Ectopia lentis associated with a 20-base deletion in the <i>ADAMTSL4</i> gene in the Old Order Amish population

This is the first study to identify an <i>ADAMTSL4</i> gene mutation in the Anabaptist population. Despite sharing the same genetic mutation, patients presented with a wide range of manifestations. A portion of affected individuals likely remain undiagnosed in the Anabaptist and general populations, especially if they are asymptomatic and only have mild lens subluxation. Implementation of early genetic screenings in high-risk populations can lead to improved awareness and patient outcomes.