Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Zoéline Mars, Andrea Zanetti, Karolina Kamińska, Takero Miyagawa, Duanya Liu, Aline Antonio, Gavin Arno, Isabelle S. Audo, Carmen Ayuso, Hafiz Muhammad Jafar Hussain, Xuan Bao, Pilar Barberán-Martínez, Béatrice Bocquet, Anna M. Boguszewska‐Chachulska, Christel Condroyer, , Isabelle Perrault
The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.
Genome Medicine · Oct 31, 2026Peer-reviewedGenetic & Genomic Medicine