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.

The male eyebrow sits along the supraorbital ridge and has a flat contour. In men without frank brow ptosis, the eyebrow position relative to the pupil and the lateral canthus does not significantly fall with age despite the periocular changes associated with aging. However, 3-dimensional analysis demonstrates that individuals with deep-set eyes have a lower positioned eyebrow then those with a more shallow depth below the supraorbital rim. These findings are helpful in surgical management of the eyelid-eyebrow continuum. The age-related changes in the eyebrow area should be thought of as a 3-dimensional construct with collapse of the structure and not simply descent of the eyebrow.

Eye findings in pediatric Graves' disease are usually mild and typically respond to local measures and control of disturbed thyroid function. Surgery is indicated in a small number of patients for cornea exposure or appearance issues. Graves' disease-associated optic neuropathy has never been reported in the pediatric population.