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Blepharospasm is a form of focal dystonia characterized by overactivity of the orbicularis oculi and other muscles around the eyes. The clinical manifestations include an increased blink rate, forceful exaggerated blinks, and, often, episodes of sustained eyelid closure. Blepharospasm is rare, affecting approximately 16 to 133 persons per million.1 The cause of blepharospasm is unknown, in part because its rarity makes it difficult to organize studies that are large enough to generate meaningful results with broad applicability.
Several small case-control studies have shown a high incidence of blepharospasm within some families, suggesting an inherited genetic basis. However, familial clustering does not always mean a disorder is genetic. Tuberculosis is a good example: an infectious disease for which familial clustering is due to horizontal spread of a pathogen, and not to vertical transmission via a gene. Other small case-control studies of blepharospasm have shown a high incidence of prior or coincidental ocular symptoms, such as dry eye, blepharitis, and conjunctivitis. These findings are suggestive of a possible environmental contribution. However, these ocular problems could appear to be more frequent because of ascertainment bias relating to recall, especially in retrospective studies. Most cases of blepharospasm are sporadic, and it is not clear whether environmental factors may be similar in sporadic vs familial cases.
In the current issue of Neurology®, Defazio and colleagues2 describe some …
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