Ocular myasthenia - Diagnosis, treatment, and pathogenesis

Background: Although myasthenia gravis (MG) is often considered the best-understood autoimmune disorder and effective treatments have controlled life-threatening complications, the pathogenesis of ocular myasthenia (OM) remains enigmatic, and its clinical consequences offer therapeutic challenges. Review Summary: About half of patients with MG present with visual complaints of droopy eyelids or double vision, and many will remain with purely ocular muscle weakness without generalized weakness, defined as CM. OM may be confused with disorders of the brainstem, ocular motor nerves, and eye muscles. Frustrating for the clinician, confirmatory tests such as the edrophonium test, serum acetylcholine receptor antibodies, and standard electrodiagnostic evaluations may fail to positively identify the clinical suspicion of OM. Patients may derive relief from nonpharmacologic interventions and cholinesterase inhibitors, but most will desire better symptom control with corticosteroids or need other immunosuppression. Early corticosteroid therapy may reduce the probability of generalization of the disease. The reasons for ocular muscle involvement by OM include physiologic and cellular properties of the ocular motor system and the unique immunology of OM, which, when better understood, will lead to novel treatments. Conclusions: OM is a challenging disorder for the clinician and scientist, with both learning from the other for the betterment of the patient. The future requires answers to why the ocular muscles are so frequently involved by MG, whether the generalization of the disease may be limited by early corticosteroid treatment, and what treatment options may be developed which will improve symptoms without long-term complications.