Progressive visual loss and an optic disc tumour in a young man

A27-year-old, previously healthy army officer experienced a painless decrease in vision in his right eye for 1 week, associated with floaters. He had also experienced bilateral irritation of his eyes 3 months previously, which he thought had been caused by conjunctivitis. At the time he did not consult any physician. Ophthalmic examination in a regional hospital disclosed a visual acuity (VA) of 20/60 OD and 20/20 OS. Colour vision testing showed a few errors OD. The anterior segments were normal, but a swollen optic disc with venous congestion and small haemorrhages was noticed OD. The vitreous was hazy and visual field examination showed a central scotoma. Examination of the left eye did not show any abnormality. The initial diagnosis was papillitis (optic neuritis). Magnetic resonance imaging (MRI) of the head and orbit did not show any signs of multiple sclerosis, and blood chemistry (complete blood count, erythrocyte sedimentation rate) and serology (human immune deficiency virus, borrelia, cytomegalovirus) were also normal. Antinuclear antibodies (ANAs) were at borderline levels. Lumbar puncture did not show cells or protein in the cerebrospinal fluid. No treatment was initiated at that time. Three weeks later, the subject’s VA was 20/50 OD and the venous congestion was milder. He was scheduled for a monthly follow-up, but cancelled the visits because of occupational commitments. Three months later, his vision had decreased to counting fingers at 3 m OD, and the fundus showed a juxtapapillary tumour. He was referred to our ocular oncology service. The fundus showed an amelanotic mass in the right eye, measuring 3.8 mm in thickness and 8.2 mm in diameter, surrounded by an exudative retinal detachment and vitreous opacities (Fig. 1A). A chest radiograph and further serological testing were requested. An internist was consulted in order to identify any underlying medical causes, especially granulomatous inflammation. (A) The fundus at diagnosis with an optic disc granuloma and associated vitreous snowballs. (B) A chest radiogram and (C) computed tomography show pulmonary infiltrates (arrowheads). (D–G) Secondary haemorrhage contributing to vitreoretinal traction upon regression. (H–J) Shrinkage of the granuloma with diminishing lipid exudation and relief of traction. (K) Recurrence with enlargement of the granuloma and new lipid exudation. (L) Quiet fundus at 24 months after retapering of corticosteroid treatment. The radiograph showed bilateral pulmonary infiltrations (Fig. 1B), which were confirmed, together with mediastinal lymphadenopathy, by computed tomography (Fig. 1C). The subject’s level of serum angiotensin-converting enzyme (ACE) was elevated (1178 U/l, normal upper limit 45 U/l), suggesting sarcoidosis. Systemic steroids were administered intravenously (1 g/kg/day for 3 days), followed by oral prednisolone 80 mg/day, which was tapered gradually. The patient responded well to steroids (Fig. 1D–J), but resolution of the optic disc granuloma was complicated by increasing vitreoretinal traction between the main focus and a smaller granuloma that became visible inferiorly (Fig. 1D–G). In addition, lipid exudation emerged when the exudative detachment resolved (Fig. 1H–J). When the prednisolone dose was tapered to 7.5 mg/day, the lipid exudation resumed and the granuloma started to increase in size (Fig. 1K). The oral prednisolone dose was increased to 40 mg/day. At 1 year, after tapering the dose a second time to 7.5 mg/day, vision has been restored to 0.1 OD, the granuloma appears inactive and vitreoretinal traction has alleviated (Fig. 1L). Although the first impression upon consultation was of a granulomatous inflammation, a number of other diagnoses also needed to be considered: papillitis; juvenile xanthogranuloma; acquired astrocytoma; hemangioblastoma; medulloepithelioma; glioma; optic nerve sheath meningioma; amelanotic melanoma; metastasis, and infiltration by acute lymphocytic leukaemia. None of these appeared as likely as sarcoidosis, a non-familial, sporadic disease of unknown aetiology (Jones 2002), which occurs most frequently between the third and fourth decades of life, especially among Africans (Miller et al. 2004). The primary pathology is a non-caseating granuloma (Gal & Koss 2002) and about 50% of patients develop ocular manifestations (Jordan et al. 1988). The most common ocular manifestation is uveitis, of which 85% is anterior in type (Karma et al. 1988; Miller et al. 2004), although posterior segment involvement in some populations can be more common than is generally appreciated (Khanna et al. 2007). Neurosarcoidosis occurs in 5–10% of patients (Miller et al. 2004). In 50% of patients with neurosarcoidosis, neurological symptoms are the presenting sign of the disease (Miller et al. 2004). The optic nerve is affected in 5–16% of neurosarcoidosis cases and is the second most commonly affected intracranial nerve after the facial nerve. Conversely, 1% of patients with sarcoidosis develop optic nerve involvement, often unilaterally (Miller et al. 2004). Optic disc pallor is the most common finding in optic nerve involvement in sarcoidosis. Optic disc granuloma represents another main clinical manifestation. Consequently, a swollen optic disc or a frank optic nerve pseudotumour may be the first sign of an important systemic disease, the diagnosis of which may be missed if sarcoidosis is not kept in mind.