Congenital monocular elevation deficiency associated with a novel<i>TUBB3</i>gene variant

Abstract

We show that familial MED can arise from a <i>TUBB3</i> variant and could be considered a limited form of CFEOM. Neurological features such as mild facial palsy and cortical malformations can be present in patients with MED. Thus, in individuals with congenital MED, consideration may be made for <i>TUBB3</i> mutation screening.