Management of Ocular Pathology in Patient with Schwartz-Jampel Syndrome: About a Clinical Case

Abstract

Importance: Schwartz-Jampel syndrome (SJS) is a rare genetic disorder that affects bone and muscle development, causing muscle rigidity, joint contractures, and skeletal anomalies.
Ophthalmological involvement in SJS is often associated with facial features such as blepharophimosis, ptosis and blepharospasm.

Objective(s): To evaluate the management of strabismus in a patient with Schwartz-Jampel syndrome and assess the efficacy of botulinum toxin injection followed by surgical intervention.

Design: Case report and treatment analysis.

Setting: Ophthalmology in a tertiary care hospital.

Participants: A 30-year-old woman with a known diagnosis of Schwartz-Jampel syndrome presenting with double vision and worsening strabismus.

Intervention for Clinical Trials or Exposure(s) for Observational Studies: The patient initially received botulinum toxin injections in both medial rectus muscles (7.5 IU on the right and 10 IU on the left). Following partial improvement in strabismus, surgical intervention under general anesthesia was performed, involving medial rectus weakening and lateral rectus reinforcement.

Main Outcome(s) and Measure(s): Primary outcomes included the degree of strabismus as measured by cover test (alternating esotropia) and the resolution of diplopia. Secondary outcomes included the limitation of eye abduction and the success of surgical correction.

Results: Botulinum toxin injections reduced the magnitude of strabismus from 90 prism diopters (PD) to 60 PD. Surgical correction was performed with medial rectus weakening and lateral rectus reinforcement. Postoperatively, the patient showed no diplopia, and cover test revealed orthotropia. One month post-surgery, the patient developed a minor left esotropia (10-12 PD) with minimal right eye abduction limitation (1+).

Conclusion & Relevance: This case highlights the successful management of strabismus in a patient with Schwartz-Jampel syndrome using an initial treatment of botulinum toxin injections followed by surgical correction. The approach offers an effective strategy for managing complex strabismus in rare conditions, emphasizing the importance of individualized treatment and multidisciplinary care. Further studies are needed to better understand the ophthalmological manifestations of SJS and refine treatment protocols.

Keywords: Adult Acquired Esotropia, Diplopia, Lateral Rectus Resection, Prisms

Citation

Becerra AM, Torres García DJ, Morenilla BP, Gómez AÁ, Mesa VD, Palacios DC. Management of Ocular Pathology in Patient with Schwartz Jampel Syndrome: About a Clinical Case. WebLog J Ophthalmol Vis Sci. wjovs.2025.f0403. https://doi.org/10.5281/zenodo.16040597