Learnings from familial visual snow syndrome: A case series

Visual snow syndrome is a neurological condition defined by the core symptom of visual snow and various additional visual and nonvisual symptoms. It can be of significant impact for affected individuals and treatment is currently challenging. Following an index patient reporting a clustering of visual snow syndrome in his family, we identified a total of six affected family members in three generations (Graphical abstract). Intrafamilial variability was high with different phenotypes, ages of onset, and triggering events. This family provides insights into the spectrum of visual snow syndrome and suggests avoiding triggers in relatives of individuals with visual snow syndrome. Studying the genetic mechanisms in families with visual snow syndrome might be an important step toward new preventive and therapeutic insights.