Pathogenic MYRF ICA Domain Variant is Aberrantly Trafficked in the RPE and Results in Isolated Nanophthalmos

Purpose: Myelin regulatory factor is a transcription factor essential for RPE development and serves as a critical "GO" signal for eye growth. Pathogenic variants in MYRF manifest in a spectrum of clinical phenotypes ranging from isolated nanophthalmos to severe syndromic disease, in a gene dosage dependent manner. In this study, we aimed to determine the pathogenicity and molecular mechanism of a novel variant in the MYRF ICA domain, c.2083C>T (p.R695C), that leads to isolated nanophthalmos and mild retinal pigment epithelial disruption. Methods: Whole genome sequencing was performed and iden

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