A multi-center case series of sarcoid optic neuropathy

Abstract

The diagnosis of sarcoid optic neuropathy is time-sensitive, as delayed treatment risks irreversible vision loss. We sought to analyze its characteristics and outcomes. Methods: We performed a multi-center retrospective study of sarcoid optic neuropathy among 5 USA medical centers. Inclusion criteria were: 1) clinical optic neuropathy; 2) optic nerve/sheath enhancement on neuroimaging; 3) pathological confirmation of systemic or nervous system sarcoidosis.Results: Fifty-one patients were included. The median onset age of sarcoid optic neuropathy was 50 years (range, 17-70 years) and 71% were female. The median visual acuity at nadir in the most affected eye was 20/80 (range, 20/20 to no-light-perception). Thirty-four of 50 (68%) patients had radiologic evidence of other nervous system involvement and 20 (39%) patients had symptoms/signs of other cranial nerve dysfunction. Cerebrospinal fluid analysis revealed an elevated white blood cell count in 22 of 31 (71%) patients (median: 14/μL; range: 1-643/ μL). Pathologic confirmation of sarcoidosis was by biopsy of systemic/pulmonary site, 34 (67%); optic nerve/ sheath, 9 (18%); or other nervous system region, 8 (16%). Forty patients improved with treatment (78%), 98% receiving corticosteroids and 65% receiving steroid-sparing immunosuppressants, yet 11/46 patients (24%) had a visual acuity of 20/200 or worse at last follow-up. Conclusions: Sarcoid optic neuropathy frequently occurs with other clinical and radiologic abnormalities caused by neurosarcoidosis and diagnostic confirmation occasionally requires optic nerve/sheath biopsy. Improvement with treatment is common but most patients have some residual visual disability. Improved recognition and a more expeditious diagnosis and treatment may spare patients from permanent vision loss.

Neurosarcoidosis of the Cauda Equina

“…Multicenter collaborative efforts would likely offer the most comprehensive way of accomplishing this, as has been demonstrated in other areas of neurosarcoidosis research. 26,27 Neurosarcoidosis of the cauda equina is an uncommon but distinct clinicoradiographic phenotype of the disease given its robust inflammatory CSF profile, the presence of nodular enhancement of cauda equina nerve roots on MRI, its nonsustained response to corticosteroids, and the tendency for it to produce significant long-term disability. Optimal treatment regimens remain unclear, but methotrexate-and infliximabbased strategies resulted in the best outcomes in our cohort.…”

“…Multicenter collaborative efforts would likely offer the most comprehensive way of accomplishing this, as has been demonstrated in other areas of neurosarcoidosis research. 26 , 27 …”

Chronic Relapsing Inflammatory Optic Neuropathy (CRION)

“…Patients affected with CRION tend to have an excellent clinical response to steroids, in terms of pain resolution and vision improvement, but often deteriorate after steroid tapering that could range from days to months [1]. This course may also be seen in granulomatous optic neuropathy, but CRION is felt to generally be distinct from sarcoidosis, with the latter condition having other nervous system involvement on neuroimaging in 68% of patients [19]. Sarcoidosis has not been identified in a median of 8 years of follow-up of CRION patients [1].…”

Neurosarcoidosis - an ever-present clinical challenge

“…The disfunction of the nerve can be caused by different pathological processes, such as granulomatous infiltration of the nuclei of the specific nerves, the increase of the intracranial pressure or by meningitis (damaging the subarachnoid part of the nerve). Sorting by the frequency of affliction, the unilateral affliction of facial nerve is the most common presentation, followed by n. opticus with scotoma [4,5].…”

“…If large neural fibers are damaged, the patient will have mononeuritis, polyneuritis, Landry or Gillen-Barre syndrome. However, if small neural fibers are damaged, the patient can have restless leg syndrome or other disorders related to movement of the legs, as well as the loss of sensibility for pain or temperature, and autonomous disfunction [4]. Sudden onset of seizures in patients with sarcoidosis calls for a detail examination of the central nervous system, and these patients, unfortunately, have worse outcome with a fulminant course of the disease.…”