Neuro-ophthalmic Complications of Sarcoidosis

Constantino, Tawnya; Digre, Kathleen B.; Zimmerman, Patrick L.

doi:10.1055/s-2000-6838

Cited by 29 publications

(27 citation statements)

References 65 publications

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“…3 Her conjunctival nodules, chorioretinitis, papillitis, and perivascular sheathing are representative of the inflammation seen in ocular sarcoidosis 12,13 and not in CGD. 14 Unlike the chronic type of optic nerve involvement in sarcoidosis, the acute form responds well to corticosteroid therapy, 15 as seen in patient 1.…”

Section: Figurementioning

confidence: 99%

Sarcoidosis in Chronic Granulomatous Disease

et al. 2006

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In addition to increased susceptibility to infections in patients with chronic granulomatous disease (CGD), a higher incidence of sterile inflammatory disorders in these patients has been noted. However, sarcoidosis has not been reported previously in CGD. In this report, we describe two patients who have CGD and a disorder consistent with sarcoidosis on the basis of unequivocal clinical-radiographic presentations, their responses to treatment, and serum angiotensin-converting enzyme levels. Serum angiotensin-converting enzyme levels were measured in 26 other patients with CGD to establish an appropriate reference range. A possible relationship between CGD and sarcoidosis is discussed. C HRONIC GRANULOMATOUS DISEASE (CGD) is a rare primary immunodeficiency with an incidence of 1 in 200 000 to 250 000 live births. 1 Mutations in any 1 of the 4 genes (CYBB, CYBA, NCF-1, or NCF-2) encoding the subunits (gp91 phox , p22 phox , p47 phox , and p67 phox , respectively) of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex result in defective production of microbicidal reactive oxidant species. 2 Patients with CGD therefore are more susceptible to recurrent suppurative infections. Granulomas, typically caseating, in the setting of infections are a hallmark of CGD. The mechanism for granuloma formation remains unclear and may be related to factors such as increased susceptibility to infections and poor clearance of microorganisms. In addition, a significant subset of patients with CGD have noninfectious inflammatory problems that are often autoimmune in character. The reason for this association is poorly understood.Sarcoidosis, a multiorgan granulomatous disease, occurs at a frequency of 1 to 50 per 100 000 individuals with a cause that remains unknown despite its first description Ͼ100 years ago. 3 The pathognomonic finding of sarcoidosis is noncaseating epithelioid granulomas, although necrosis is occasionally seen. 4 Clinically, sarcoidosis can have a spectrum of presentations and severity. 5 Pulmonary involvement is the most common, occurring in ϳ90% of the patients, mostly including bilateral hilar lymphadenopathy. 6 Extrathoracic localizations include peripheral lymph nodes, skin (erythema nodosum, and lupus pernio), eyes (uveitis, iridocyclitis, and keratoconjunctivitis), joints, liver, and spleen. Neurosarcoidosis is a serious and much more rare complication that is seen in 5% to 15% of patients. 3 In the absence of specific tests for sarcoidosis, it is essentially a diagnosis of exclusion. However, in addition to typical clinical-radiographic findings and histopathologic evidence of noncaseating granulomas, diagnosis can be supported by raised serum angiotensin-converting enzyme (ACE) levels.To date, we have been unable to identify a report of sarcoidosis in patients with CGD. Here we report a diagnostic dilemma in 2 patients with CGD and features that are compatible with sarcoidosis and not explainable by their underlying CGD and discuss possible relationships between CGD and sar...

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Section: Figurementioning

confidence: 99%

Sarcoidosis in Chronic Granulomatous Disease

et al. 2006

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“…Optic disc swelling can represent papilledema from increased intracranial pressure (ICP), papillitis from optic neuropathy, or infiltration of the disc. 1 We discuss the various pathophysiologic features of ODS in sarcoidosis.…”

mentioning

confidence: 99%

The Pathogenesis and Treatment of Optic Disc Swelling in Neurosarcoidosis

Katz

Bruno²,

Winterkorn³

et al. 2003

Arch Neurol

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“…The drug has broad immunosuppressive effects on both humoral and cellular immunity [5•, Class III]. Cyclophosphamide is principally used as a second line agent [5•,8•,Class III]. It is known to be beneficial when steroids alone have been ineffective.…”

Section: Cyclophosphamidementioning

confidence: 99%

“…Cyclosporine is a xenobiotic, immunosuppressive agent derived from fungi that inhibits T-lymphocyte activation [5•,8•,Class III]. However, its effectiveness in neurosarcoidosis has been questioned [5•,Class III].…”

Section: Cyclosporinementioning

confidence: 99%

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Neurosarcoidosis

Walker¹,

Tyor

2001

Curr Treat Options Neurol

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Neurosarcoidosis is an uncommon disorder and requires a careful clinical evaluation to reach a diagnosis. Generally, patients with peripheral symptoms, which include paresthesias, painful patches over extremities, and stocking glove deficits, have a better outcome when compared with those with central nervous system (CNS) involvement. Patients with mass lesions or hydrocephalus tend to have more relapses and are often more resistant to routine therapy. Neurosarcoidosis often responds to glucocorticoids, usually within days or weeks of initiating therapy. Patients are usually maintained on 40 to 80 mg per day for 4 to 6 weeks, then tapered slowly. The use of alternative treatments for refractory neurosarcoidosis, or to reduce or eliminate steroids, includes methotrexate, cyclophosphamide, azathioprine, cyclosporine, chlorambucil, chloroquine, and hydroxychloroquine.

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Neuro-ophthalmic Complications of Sarcoidosis

Cited by 29 publications

References 65 publications

Sarcoidosis in Chronic Granulomatous Disease

Sarcoidosis in Chronic Granulomatous Disease

The Pathogenesis and Treatment of Optic Disc Swelling in Neurosarcoidosis

Neurosarcoidosis

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