
This study investigated ophthalmic manifestations in 24 KIF1A-associated neurological disorder (KAND) participants. Results revealed that 95% had optic nerve atrophy, with a higher prevalence in adults and those with severe pathogenic variants. Strabismus affected nearly 40% of participants, while visual acuity, color vision, visual fields, and stereopsis were impaired in most cases. Visual evoked potentials indicated optic neuropathy and dysfunction. Early counseling for visual impairment is crucial for patient support.
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