Test Background

Congenital fibrosis of extraocular muscles (CFEOM) is a strabismus syndrome characterized by congenital inability to move the eye muscles, with or without ptosis (droopy eyelids). CFEOM3, caused by variants in TUBB3, has a slightly variable phenotype from the class CFEOM1. It is inherited in an autosomal dominant manner.

This laboratory performs Sanger sequencing of TUBB3.

Gene(s)