Acquired blepharophimosis in a patient with juvenile blepharospasm

At 4 years of age, a young girl with Schwartz-Jampel syndrome developed blepharospasm with resultant blepharophimosis. Her eyelids and facial features had been normal until that time. While these rare ocular abnormalities may be present together in patients with this syndrome, the relationship between them has not been explained. We theorize that constant orbicularis squeezing in the pediatric age group retards full eyelid development and leads to acquired blepharophimosis.