Disease Directory Uveal Melanoma
Oncology

Uveal Melanoma

Also known as: ocular melanoma, choroidal melanoma, ciliary body melanoma, GNAQ/GNA11 mutation

Prevalence

5–6 in 1,000,000

Onset

Adult (median age 60s)

Type

Sporadic; BAP1 tumour predisposition syndrome in familial cases

Gene

GNAQ, GNA11, BAP1

About Uveal Melanoma

Uveal melanoma is the most common primary intraocular malignancy in adults, arising from melanocytes of the uveal tract (choroid, ciliary body, or iris) and driven by activating somatic mutations in GNAQ or GNA11 in approximately 80% of cases, resulting in constitutive MAPK and YAP pathway signalling. Unlike cutaneous melanoma, uveal melanoma is largely unresponsive to anti-PD-1 checkpoint inhibitors used in isolation and lacks high tumour mutational burden or UV-signature mutations. Approximately 50% of patients develop metastatic disease, almost exclusively to the liver, with a median survival of 6–12 months from metastatic diagnosis; tebentafusp (a bispecific gp100-CD3 fusion protein) is the only therapy demonstrating improved overall survival in HLA-A*02:01-positive patients.

Common Clinical Features

Visual disturbance: blurred vision, photopsia (flashing lights), or visual field loss from the primary tumour Asymptomatic finding on routine dilated fundoscopic examination in a significant proportion of cases Intraocular pressure elevation from tumour-related secondary glaucoma Pain or redness from iris or ciliary body tumours with anterior segment involvement Hepatomegaly, right upper quadrant pain, or jaundice from hepatic metastases Constitutional symptoms (fatigue, weight loss) in advanced metastatic disease Skin or subcutaneous metastases and orbital recurrence in rare advanced cases

Clinical Trial Eligibility Tips

What to know before applying to Uveal Melanoma trials.

HLA-A*02:01 genotyping is mandatory for tebentafusp eligibility (approximately 40–50% of Caucasian patients are positive) — request HLA typing early as processing time may delay trial screening.

BAP1 mutation and monosomy 3 status, determined from enucleation specimen or biopsy, are critical prognostic and eligibility markers for adjuvant and metastatic trials — confirm availability of tumour molecular data.

Liver metastasis pattern (number and size of lesions) and hepatic reserve (liver function tests, Child-Pugh score) are key eligibility criteria for liver-directed and systemic therapy trials; provide recent cross-sectional imaging and laboratory values.

Patient Resources

Patient Organization

Ocular Melanoma Foundation

Visit website ↗

Natural History Registry

CURE OM Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:895)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Uveal Melanoma trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Uveal Melanoma. Updated daily.

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