Infiltrative Causes of Disc Elevation

Infiltrative optic neuropathy is a condition in which systemic malignancies may infiltrate into the optic nerve to cause disc swelling.

Leukaemia and lymphoma can both lead to infiltration of various ocular structures. The difference between the two conditions is that in leukemia, the cancer cells are mainly in the bone marrow and blood, while in lymphoma they tend to be in lymph nodes.

In leukaemia, retinal infiltration causes leukemic retinopathy, characterised by dilated, tortuous retinal veins, cotton wool spots, retinal haemorrhages and vessel sheathing. Choroidal infiltration can also occur, causing a “leopard spot” fundus pattern and serous retinal detachment while infiltration of the orbit can produce ocular proptosis.

Infiltration of the optic nerve is relatively rare with studies showing this occurs in 5-13% of patients with leukaemia, although it is notably more common in children than adults. Optic nerve infiltration is considered a significant sign of central nervous system leukaemia and bone marrow disease is typically present at this stage.

Clinically, optic disc oedema is noted with fluffy white infiltrates seen superficial to the lamina cribrosa or visible more posteriorly on neuroimaging. Significant vision loss is associated with this condition.

Approximately 10% of patients with non-Hodgkins lymphoma have central nervous system (CNS) involvement and approximately 5% of these develop secondary intraocular lymphoma. CNS involvement may include infiltration and/or oedema of the optic chiasm, optic tract and/or frontal lobe.

Primary intraocular lymphoma (PIOL) refers to a case where lymphoma cells occur only in the eyes with the CNS unaffected – at least initially. Between 56-80% of cases of PIOL subsequently develop brain lymphoma.

Retinal manifestations of intraocular lymphoma are characterised by the presence of solitary or multiple flat creamy orange-yellow masses deep in the sensory retina. Vitritis is typically also present.

Infiltration of the optic nerve can cause disc oedema.

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