Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.

We report the case of a 5-year-old boy with progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene. After the patient did not respond to a single injection of botulinum toxin, he underwent levator resection combined with orbicularis myectomy of bilateral upper and lower eyelids, with satisfactory aesthetic and functional outcomes.