Blepharospasm management in Schwartz-Jampel syndrome: A systematic review

Abstract

BackgroundBlepharospasm is one of the most limiting symptoms in patients with Schwartz-Jampel syndrome and can affect early visual development, causing amblyopia and leading to disability. There is no consensus on the optimal management of blepharospasm in these patients. This systematic review aims to evaluate the current evidence for the appropriate management strategies for blepharospasm in Schwartz-Jampel syndrome.MethodsThis was a prospective register of systematic reviews (PROSPERO)-registered (CRD42024569495), Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline-adherent systematic review. Databases searched include Medline (PubMed), Scopus, and Web of Science from any time to February 1st, 2025. All scientific manuscripts published discussing the management of blepharospasm in patients with Schwartz-Jampel syndrome were included. A novel therapeutic algorithm has been developed and proposed.ResultsFrom an initial number of 59 articles, 15 of them were included. No clinical trials nor observational studies were found. All these 15 articles were case series or case reports (quality of evidence: 4 or 5), involving 21 patients. A great heterogeneity in how to manage blepharospasm in Schwartz-Jampel syndrome was gathered. Therapeutic options included oral drugs (sodium channel blockers: carbamazepine, phenytoin, and procainamide), botulinum-toxin-A, and eyelid surgery (orbicularis myectomy). The management algorithm proposal is oral sodium channel blockers as the first option and eyelid surgery as the second option treatment. Botulinum-toxin-A might be considered a therapeutic step prior to surgery.ConclusionsThe published evidence regarding management strategies for blepharospasm in Schwartz-Jampel syndrome is scarce and of low quality. Since this nosology is a very rare disease, efforts should be promoted to conduct clinical research and a consensus document for the management of blepharospasm.

Keywords: Blepharospasm; Schwartz-Jampel syndrome; botulinum toxin type A; orbicularis myectomy; sodium channel blockers.