Neuro-ophthalmic sarcoidosis

Almost 100 years after its original description, sarcoidosis remains an enigmatic disease with unclear etiology and capricious symptomology, as well as a diagnostic challenge. This review coalesces current literature on the neuro-ophthalmic manifestations of sarcoidosis and discusses the epidemiology, etiology, clinical presentation, diagnosis, and management of this disease.

Recent investigations strongly identify a genetic component as well as a host of candidate antigenic triggers. Certain human leukocyte antigen polymorphisms may influence not only the susceptibility of individuals to sarcoidosis but also the course of the disease. Diagnostic advances include the finding of two additional potential biomarkers of sarcoidosis as well as the use of positron emission tomography technology in localization of disease sites for biopsy. In addition to the concomitant and alternative use of immunosuppressive agents to steroid therapy, disease remission in refractory neuro-ophthalmic sarcoidosis with tumor necrosis factor alpha inhibitors has also been reported.

Sarcoidosis can affect any part of the visual system; the most common neuro-ophthalmic presentation is optic neuropathy. Diagnosing the disease is problematic as the clinical presentation is nonspecific which may be associated with many other pathologies and no diagnostic finding is pathognomonic. In recent years, progress has been made in identifying new biomarkers and developing imaging techniques. Although corticosteroids remain the mainstay of therapy, many new pharmacological agents have been added to the treatment arsenal.