Multimodal circadian phenotyping reveals distinct mechanisms of photic entrainment failure in two sighted patients with non-24-hour sleep-wake disorder.
Ülker Kilic Huck, François Vasseur, Sophie Braun Hughes et al.
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Case in brief
Two sighted patients with non-24-hour sleep-wake disorder (N24SWD) underwent extensive circadian phenotyping to explore mechanisms of photic entrainment failure. One patient had a normal melanopsin response but no melatonin suppression, while the other had an impaired melanopsin response yet retained melatonin suppression. These findings indicate distinct underlying pathophysiological mechanisms in N24SWD.
Diagnostic / clinical pearl
N24SWD in sighted patients may arise from different dysfunctions in the circadian photic entrainment pathway, highlighting the need for tailored assessments.
Why it matters
Understanding the heterogeneous nature of N24SWD can inform personalized therapeutic strategies, improving management of this complex disorder.