A - 102 Neuropsychological Insights into Kearns-Sayre Syndrome: a Case Study

Abstract Objective Kearns-Sayre Syndrome (KSS) is a genetic mitochondrial and neuromuscular condition with multisystemic effects, including the eyes, heart, muscles, and cognition. Very little is known regarding the cognitive profile of patients with KSS, and existing studies have presented mixed findings. Results in one study revealed impairments in visuospatial abilities and attention, while another study found impairments in global cognition and word-finding. Interestingly, both studies revealed impairments in executive functions. Method This abstract presents the case of a 46-year-old right-handed, African American female diagnosed with KSS in 2021. Symptoms of KSS first appeared in 2010 with progressive vision loss and bilateral ptosis. Genetic testing revealed MT-T1 mutation consistent with KSS. Electroretinography findings revealed mild cone atrophy and mild-to-moderate concentric visual field defects. Attentional difficulties were noted in 2016 and resulted in a diagnosis of ADHD. Memory problems were first noticed in 2016 and have persisted since then. Magnetic resonance imaging results from May 2023 revealed no structural abnormalities in the brain. Results A comprehensive neuropsychological evaluation completed in March 2024 revealed mostly intact neurocognitive functioning. Notably, performance on memory and visuospatial measures were within normal limits. However, poor performance was revealed on one measure of executive functioning. Conclusions It remains unclear whether the poor performance seen on a measure of executive functioning reflects a true cognitive deficit or just chance variation. Even so, with little information regarding the cognitive profile of KSS, baseline neuropsychological testing should be considered to monitor related cognitive changes over time.