Neurosarcoidosis presenting as CRVO combined CRAO: a biopsy-proven case report of a Chinese patient

Abstract

Background: Neurosarcoidosis is a rare systemic disorder that can affect the eye and other organs, including the central nervous system. Neurosarcoidosis infiltrating the optic nerve presenting as central retinal vein occlusion combined with artery ischaemia has not been reported in the literature previously. We describe a Chinese patient presenting with acute monocular vision loss, in whom an optic nerve biopsy confirmed the diagnosis of neurosarcoidosis.

Case presentation: A 47-year-old woman complained of acute decreased vision in her left eye over the course of 1 month. She reported that her vision deteriorated quickly within first 3 days of consulting an ophthalmologist at a local hospital. She was diagnosed with central retinal vein occlusion after funduscopic examination and fundus fluorescein angiography, and the vision in her left eye further deteriorated to no light perception. An orbital magnetic resonance imaging showed an abnormal T1-weighted image of the optic nerve after contrast enhancement. She was referred to a neuro-ophthalmologist for further evaluation. After routine blood tests ruled out infectious and metastatic diseases, she was prescribed 500 mg/d methylprednisolone for 5 days, but her vision did not improve. As she could still not perceive light, an optic nerve biopsy was performed, and the histopathology revealed non-necrotising granuloma that was consistent with neurosarcoidosis.

Conclusions: Isolated optic nerve infiltration by neurosarcoidosis without the involvement of the central nervous system or other systemic organs is challenging to diagnose. Biopsy of the optic nerve sheath is crucial for the final diagnosis of neurosarcoidosis. Therefore, a comprehensive ophthalmologic and systemic examination and work-up for inflammation of the eye, chest, and central nervous system should be conducted for atypical cases.

Keywords: Neurosarcoidosis; Optic nerve biopsy; Optic neuropathy; Retinal vein occlusion.

Fig. 1

Fundus photographs of the patient’s left eye. a: At presentation, the optic disc showed severe swelling with peripapillary and posterior retinal haemorrhaging. The macula also showed exudation and haemorrhaging. b: A central retinal vein occlusion with optic edema, dilated and tortuous veins, and extensive intraretinal haemorrhage. c: After methylprednisolone treatment, the optic disc swelling resolved along with residual retinal haemorrhaging with the narrowing of the vessels

Fig. 2

Fundus fluorescein angiography showing the tortuous retinal veins, optic oedema, and optic disc leakage at the late stage of the left eye

Fig. 3

The orbital fat-suppressed T1-weighted (T1W) magnetic resonance imaging showing (a): the enlargement of the left optic nerve compared with the right; (b): the left optic nerve showing hyperintensity on T2-weighted (T2W) imaging; (c): the dramatic enhancement of the anterior orbital portion of the left optic nerve dramatically enhanced after gadolinium injection; (d): coronal T2W imaging; (e): coronal T1W imaging after contrast; (f): sagittal T1W imaging after contrast showing segmental enhancement of the left optic nerve with a distinct boundary

Fig. 4

The left optic nerve biopsy showing the optic nerve tissues. a: The normal structure of the optic nerve was disrupted with numerous non-caseating granulomas (haematoxylin-eosin (HE) stain, × 40). b: A giant cell with multiple nuclei is surrounded by a rim composed of lymphoid cells and fibrotic collagen (HE stain, × 400). Immunohistochemistry was negative for CD68 (c, × 200) and showed a loss of GFAP (d, × 40)