Neuro-ophthalmic sarcoidosis: the University of Iowa experience

To report a case series of neuro-ophthalmic sarcoidosis manifestations from a predominantly Caucasian Midwest population.

Retrospective non-comparative case series and literature review.

Twenty patients with biopsy proven sarcoidosis cases and neuro-ophthalmic manifestations.

We reviewed 67 consecutive charts with the clinical diagnosis of neurosarcoidosis at the University of Iowa Hospital and Clinics (UIHC) Department of Ophthalmology database in Iowa City, Iowa, seen from 1984 to 2006.

Charts were reviewed for the following: 1) demographic information; 2) neuro-ophthalmic findings; 3) biopsy location and results; 4) pre-existing sarcoidosis; 5) neuroimaging studies (e.g., cranial magnetic resonance imaging and computed tomography scans); 6) cerebrospinal fluid results; 7) sarcoid related testing (serum angiotensin converting enzyme, chest radiograph, chest computed tomography scans, Gallium scan, bronchoalveolar lavage, pulmonary function testing); 8) treatment; and 9) course of disease.

Twenty of the 67 charts (30%) had biopsy proven sarcoidosis and neuro-ophthalmic manifestations. Of the 20 included cases, 4 (20%) were men and 16 (80%) were women. Six (30%) patients were African-American and 14 (70%) were Caucasian. The average age at diagnosis was 43.1 years with a standard deviation of 14.1 and a range of 22 to 80 years. Neuro-ophthalmic manifestations included optic neuropathy (14), cranial neuropathy (4), Horner's Syndrome (1), tonic pupil (1), and optic tract involvement (1). Of the 14 patients presenting with optic neuropathy, 8 had optic disc edema, 5 had optic disc pallor and 1 had an optic disc granuloma. Contrast cranial magnetic resonance imaging (MRI) showed pathologic contrast enhancement (16 of 19 cases) involving optic nerve (9), optic chiasm (1), optic radiations (1), cavernous sinus (1), leptomeninges (3), and cerebral parenchyma (3). Chest imaging was abnormal in the course of disease for 12 of 18 and serum angiotensin-converting enzyme was only elevated in 5 of 15 patients tested. All 20 patients were treated with corticosteroids but five required additional immunosuppressive therapy to control disease activity. The neuro-ophthalmic course was relapsing and remitting in 8 cases, stable or resolved in 7, and chronic in 5 patients. After treatment of patients with optic neuropathy, visual acuity at last follow-up visit was improved in 5, worsened in 5, and stable (i.e., within one Snellen acuity line of baseline) in 4.

In our Midwest retrospective case series of biopsy proven neuro-ophthalmic sarcoidosis, patients were predominately white females with a wide age range. Consideration for the diagnosis of neurosarcoidosis should therefore not be limited by age, gender, or race. Optic neuropathy was the most common manifestation, typically presenting with optic disc edema and severe visual loss. No light perception vision was relatively common and should be considered a "red flag" for the diagnosis. Contrast cranial MRI frequently shows pathologic enhancement of the visual pathway. Serum angiotensin converting enzyme and chest radiography had relatively poor sensitivity for detecting biopsy proven disease in our study and therefore additional testing for tissue diagnosis might still be necessary for extrapulmonary neuro-ophthalmic sarcoidosis. Corticosteroids are the mainstay of therapy but some patients may require additional immunosuppressive therapy.