Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting nerves/nuclei innervating muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations KIF21A or TUBB3. Although spatiotemporal expression studies have shown and TUBB3 in developing retinal ganglion cells, it unclear whether extends beyond oculomotor system. We aimed to investigate visual system performing high-resolution optical coherence tomography (OCT) scans characterizing cells within optic nerve head retina. Sixteen patients with were screened for KIF21A, TUBB3, TUBB2B. Six had apparent hypoplasia. OCT showed neuro-retinal rim loss. Disc diameter, width, area, peripapillary fiber layer thickness significantly reduced compared controls (p < 0.005). Situs inversus vessels was seen five patients. Our study provides evidence structural changes CFEOM. show first time that there are widespread This shows phenotype motor nerves.