Neuro-Ophthalmic Manifestations of Sarcoidosis

Abstract

Background: Sarcoidosis is an idiopathic, multisystem, inflammatory disease that has central nervous system involvement in 5%-15% of cases. The presentation of neurosarcoidosis is highly variable, and the MRI findings often mimic the appearance of other central nervous system diseases. Therefore, the diagnosis can be challenging. About one-third of neurosarcoidosis cases have neuro-ophthalmic manifestations and, thus, may be evaluated by a neuro-ophthalmologist early in the disease course.

Methods: We performed a retrospective review of 22 cases of biopsy-proven sarcoidosis with neuro-ophthalmic manifestations, seen at the Wilmer Eye Institute from January 2013 to September 2019, in which we described the demographic information, clinical presentations, neuroimaging findings, and diagnostic evaluations.

Results: Twenty-two patients were included. Fifteen patients identified as black and 7 as white. Fifteen were women, and 7 men. Mean age at sarcoidosis diagnosis was 45.9 years (range 26-66). Neuro-ophthalmic findings included optic neuropathy in 11 (50%); proptosis/orbital inflammation in 5 (23%); abducens palsy in 5 (23%); trochlear palsy, trigeminal distribution numbness, and bitemporal hemianopia in 2 each (9%); and oculomotor palsy, facial palsy, optic perineuritis, dorsal midbrain syndrome, central vestibular nystagmus, and papilledema in 1 each (5%). Eight (36%) had a pre-existing diagnosis of sarcoidosis; however, in 14 (64%), the neuro-ophthalmic presentation led to the sarcoidosis diagnosis. Patients with a pre-existing sarcoidosis diagnosis were younger than those without this diagnosis (38.5 vs 50.1 years, P = 0.035). Brain MRI was abnormal in all but 1 case (95%). In patients without a pre-existing sarcoidosis diagnosis, all 7 tested for angiotensin converting enzyme (ACE) had normal values, and 75% of the 12 who had computed tomography (CT) chest had findings suggestive of sarcoidosis (86% of black patients vs 50% of white patients).

Conclusions: Patients with neurosarcoidosis may present initially with a neuro-ophthalmic manifestation, and this presentation may be more common in older patients. MRI usually is abnormal, although findings may be nonspecific. Serum testing for ACE is not helpful. Normal CT chest does not rule out underlying sarcoidosis, particularly in white patients.