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Cancer‐associated retinopathy (CAR) is a well‐described paraneoplastic syndrome that is mediated by antiretinal antibodies.1 Inflammatory changes such as optic disc oedema and retinal vasculitis have not been reported in CAR. Although CAR has been reported with various tumours, there have been no reports of paraneoplastic retinopathy or optic neuropathy with pineal gland tumours.2 We report a case of a novel paraneoplastic syndrome consisting of bilateral disc oedema and retinal periphlebitis in a patient with pineal gland germinoma.
A 14‐year‐old boy with a pineal gland tumour was referred because of blurred vision. Best‐corrected visual acuity was 20/20 in the right eye and 20/20 in the left eye. Examination of the pupils and eye movements verified the presence of a dorsal midbrain syndrome. Anterior segment examination and intraocular pressures were normal. Dilated fundus examination showed bilateral disc oedema and retinal periphlebitis (fig 11).). A complete systemic investigation for vasculitis performed by the rheumatology service was negative. Full‐field electroretinography was normal. The neurosurgical team performed a ventriculostomy with endoscopic biopsy of the lesion. The biopsy results were consistent with pineal gland germinoma. At the time of ventriculostomy, the opening pressure was <10 cm H2O. Cytological examination of cerebrospinal fluid obtained during ventriculostomy was negative for malignant cells. Taken together, these findings indicate that the optic nerve swelling was inflammatory in nature and not secondary to raised intracranial pressure or leptomeningeal tumour spread. After biopsy, the patient was started on a course of focal irradiation and chemotherapy (carboplatin, etoposide and ifosfamide).
We decided to observe the patient, and no treatment for the ocular inflammation was initiated. Before the initiation of radiotherapy and chemotherapy, serum was analysed for autoantibodies. Western blot analysis of the patients' serum against retinal protein extract was negative (data not shown), whereas the blot against optic nerve protein extract revealed a single band of approximately 35 kDa (fig 22).). During follow‐up 6 months after initial treatment of the tumour, retinal periphlebitis and optic disc swelling were resolved (fig 33).). Western blot analysis repeated with the patients' serum obtained during remission failed to reveal the 35 kDa band (fig 22).). Three years after the initial presentation, the patient remains in remission of his tumour without any evidence of optic disc oedema or retinal periphlebitis. There has been no evidence of metastatic disease, as confirmed by serial MRI scans.
We have reported the case of a patient with pineal germinoma who was found to have bilateral optic disc oedema and retinal periphlebitis. The inflammatory fundus findings, along with the presence of antibodies against a 35 kDa optic nerve protein, resolved with successful treatment of the tumour. CAR is known to be secondary to autoantibodies specific for aberrantly expressed retinal proteins in systemic tumours that cross react with proteins in retinal photoreceptors.3 Interestingly, the pineal gland is known to express ocular antigens.4,5 Cross reactivity between autoantibodies specific for tumour antigens with proteins in the optic nerve and retinal vessels could explain the inflammatory fundus findings observed in our patient.
Chang et al6 have previously reported a case of bilateral optic disc oedema with retinal periphlebitis in a 14‐year‐old boy with pineal germinoma. As in our patient, the inflammatory fundus findings resolved after successful treatment of the tumour. Paraneoplastic optic neuropathy has been associated with autoantibodies against 62 and 66 kDa antigens.2 We propose that the paraneoplastic syndrome of optic disc oedema and retinal periphlebitis, which we and others have described in patients with pineal germinoma, represents a novel paraneoplastic syndrome. The 35 kDa autoantibody target identified in this report may be implicated and in fact unique to this syndrome.
Competing interests: None declared.