Pathogenic MYRF ICA Domain Variant is Aberrantly Trafficked in the RPE and Results in Isolated Nanophthalmos
Gabrielle M Rozumek, Rachel S. Lim, William Presley, Bridget Blevins, Bin Guan, John Y. S. Han, Ehsan Ullah, Amelia Naik, Tara E. Hahn, Rodrigo Young, Sayoko E. Moroi, Robert B. Hufnagel, Jason M. L. Miller, Lev Prasov
This study identifies a pathogenic MYRF variant causing isolated nanophthalmos by showing it is cleavage deficient, mislocalized, and reduces transcriptional activity with SOX10.
medRxiv · Nov 9, 2026 · PreprintGenetic & Genomic Medicine