RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Authors: Van Vooren E, Van Den Broeck F, Mahieu Q, Geens E, Van Heetvelde M, De Bruyne M, Van de Sompele S, Uppal S, Poliakov E, Dhaenens CM, Gregory-Evans CY, Hoefsloot L, Gonzalez AI, Kohl S, Zuleger T, Demaret T, Tuupanen S, Ruys J, Van Os L, Platteau E, Jacob J, Vermeer S, Postelmans L, Dahan K, Maystadt I, Rasquin F, Thiadens AAHJ, Stephenson KAJ, Sheri N, Smirnov V, MacDonald IM, Gregory-Evans K, Redmond TM, De Zaeytijd J, Leroy BP, Bauwens M, De Baere E

Citation: Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):53. doi: 10.1167/iovs.66.12.53. Res Sq [Preprint]. 2025 May 5:rs.3.rs-5849564. doi: 10.21203/rs.3.rs-5849564/v2.

Specialties: Genetics, Ophtalmology, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.