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Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasis

2026-01-30

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<h4>ABSTRACT</h4> Leber congenital amaurosis (LCA) and Early-onset severe retinal dystrophy (EOSRD) manifest within the first months and the first years of life, respectively. They are the leading cause of severe vision impairment in childhood. Using next generation sequencing, we identified eight families of patients with LCA/EOSRD carrying biallelic combination of six germline variants in DDX41 , encoding a DE...

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Literature Corpus work
ea64f17f-91c2-5c86-8f2b-5a7e44f996c4
DOI
10.64898/2026.01.28.26344834
Open publication

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