Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

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Twenty-four subjects with abnormal binocular experience, due to a condition of convergent strabismus that existed during different periods of their lives, were tested. Interocular transfer of the tilt-aftereffect was used to assess binocularity. Individuals between 1 and 3 years of age are most susceptible to abnormal binocular experience.

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