Arno G

ORCID: 0000-0002-6165-7888 · 1 paper in corpus
2026
Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.
European journal of human genetics : EJHG ·doi:10.1038/s41431-026-02232-5

Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevel…