macular dystrophy, X-linkedResearch
Research identifies the AP5B1 p.(Leu785Pro) variant as a common cause of late-onset macular dystrophy, which can present with various extraocular symptoms. This discovery enhances understanding of the genetic factors contributing to this condition.
ap5b1 p leu785pro variant is a frequent cause of late onset macular dystrophy with variable extraocular manifestations
Original title: “The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.”