Ocular Findings in a Patient With KAT6A Mutation.

Abstract excerpt

KAT6A mutations are associated with intellectual disability, speech delays, dysmorphic facial features, and strabismus. However, detailed ocular findings of such patients have not yet been published. In this case report, the authors present a patient with a KAT6A mutation and optic nerve malformation. [J Pediatr Ophthalmol Strabismus. 2021;58(3):e9-e11.].

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