A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome

A novel hemizygous K306N variant in the OPHN1 gene may be associated with cyclic strabismus in a male patient without intellectual disability.

• Cyclic strabismus is characterized by alternating days of strabismus and non-strabismus, linked to circadian rhythms.
• Mutations in the OPHN1 gene are known to cause OPHN1 syndrome, often resulting in strabismus and intellectual disability.
• The K306N variant enhances the ability of OPHN1 to bind to specific lipids, PI4P and PI5P.
• This enhanced binding could influence the location of the OPHN1 protein within cells in a cyclic pattern.
• Some cases of cyclic strabismus may arise from gain-of-function variants in the OPHN1 gene.

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