Intraocular tumours: uveal melanoma and retinoblastoma

Lesion

Uveal melanoma is the main eye cancer of adults and spreads to the liver; retinoblastoma is the eye cancer of young children and causes a white pupil.

Updated Nov 12, 2026

Key points

Uveal nevi are common; melanoma is suspected with growth, thickness, orange pigment and subretinal fluid.
Uveal melanoma: spindle and epithelioid cells; epithelioid cells, monosomy 3 and BAP1 loss mean higher metastatic risk; spreads by blood (no lymphatics in the uvea), mainly to the liver.
Retinoblastoma: leukocoria, strabismus; heritable form (germline RB1) is often bilateral and early, with later risk of osteosarcoma and other sarcomas.
Retinoblastoma histology: small blue cells, Flexner-Wintersteiner rosettes (with a lumen), Homer Wright rosettes, fleurettes, necrosis and calcification.
Spread of retinoblastoma: along the optic nerve to the brain, and through the choroid to the blood.
Vitreoretinal lymphoma: large B cells in vitreous and under the pigment epithelium; often followed by brain lymphoma.

What it is

The two most important primary intraocular malignancies are uveal melanoma in adults and retinoblastoma in children. Uveal melanoma arises from melanocytes of the choroid, ciliary body or iris, is not linked to sunlight, and is driven by GNAQ or GNA11 mutations; loss of chromosome 3 and BAP1 predicts metastasis, almost always to the liver, sometimes many years later. Retinoblastoma arises from retinal precursors after loss of both RB1 copies; heritable cases are often bilateral and carry a risk of other cancers. Vitreoretinal lymphoma, a form of primary CNS lymphoma, masquerades as uveitis.

Step by step

A child inherits one mutant RB1 (heritable form) or both copies are lost in one retinal cell (sporadic).
Without RB protein, E2F is free and the cell cycle passes G1 unchecked.
Retinal precursors proliferate into a tumour, often with calcification.
The white tumour reflects light and replaces the red reflex.
Untreated, it grows along the optic nerve into the brain or spreads through the blood.

Uveal melanoma vs retinoblastoma

Feature	Uveal melanoma	Retinoblastoma
Age	Adults, peak in the sixties	Young children, most before age five
Origin	Uveal melanocytes	Retinal precursor cells
Genes	GNAQ, GNA11; BAP1, monosomy 3 (high risk)	RB1 (both copies)
Presentation	Blurred vision, field loss, found on exam	White pupil (leukocoria), squint
Spread	Blood to the liver	Optic nerve to brain; choroid to blood
Heritability	Rare (BAP1 syndrome)	About 40 percent heritable, often bilateral

Markers

SOX10, Melan-A, HMB-45 (melanoma)
BAP1 nuclear loss
Synaptophysin (retinoblastoma)
CD20 (lymphoma)

Clinical notes

The red reflex test in newborns and infants screens for retinoblastoma and congenital cataract.
Uveal melanoma patients need lifelong liver surveillance.

Test yourself

Think of the answer, then tap the question to see it.

Where does uveal melanoma usually metastasise, and why by that route?

To the liver, through the blood, because the uvea has no lymphatics.

Which genetic changes predict metastasis in uveal melanoma?

Monosomy 3 and loss of BAP1, along with epithelioid cell type.

What is a Flexner-Wintersteiner rosette?

A ring of tumour cells around a central lumen, a sign of photoreceptor differentiation in retinoblastoma.

Which other cancer is a risk later in life for survivors of heritable retinoblastoma?

Osteosarcoma and other sarcomas, especially after radiation.

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Educational content on the mechanisms of disease; not a diagnostic or treatment guide and no substitute for a health professional's advice. No doses are given.

Sources: Intraocular (Uveal) Melanoma Treatment (PDQ®)–Health Professional Version (National Cancer Institute, 2026); Retinoblastoma Treatment (PDQ®) - NCI (National Cancer Institute, 2026).

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