Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND).

ABSTRACT:

Purpose

To define the ophthalmic manifestations in KIF1A-associated neurologic disorder (KAND), a rare, progressive neurodegenerative disorder caused by pathogenic variants in the KIFA1 gene.

Design

Cross-sectional study.

Methods

Clinical ophthalmic examination and multimodal imaging were performed for 24 participants enrolled in the KIF1AOutcome measures, Assessments, Longitudinal And endpoints (KOALA) Study. Visual evoked potentials (VEPs) were performed on select participants.

Results

The average central visual acuity in pediatric participants was 20/43 (logMAR 0.329, range 0.0-1.0) and 20/119 (logMAR 0.773, range 0.471-1.351) in adults. Ninety-five percent of participants examined had some degree of optic nerve atrophy detected by clinical examination and/o

SUBMITTER: Abdelhakim AH 

PROVIDER: S-EPMC11976422 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature