Ocular melanoma, or melanoma of the eye, is the most common primary eye tumor in adults with around 2,000 new cases diagnosed each year in the United States. Like other melanomas, it begins in melanocytes – the cells that produce the pigment melanin that colors the skin, hair, and eyes, as well as forms moles.
The MRF is pleased to have an initiative focused on ocular melanoma, called Community United for Research and Education of Ocular Melanoma, or CURE OM. Click here to learn more about the CURE OM initiative.
Where does ocular melanoma occur?
Ocular melanoma, also known as uveal melanoma or choroidal melanoma, is usually found in the part of the eye called the uvea, which is composed of:
- The iris - the colored part of the eye that opens and closes to change the amount of light that enters the eye.
- The ciliary body - a muscle in the eye that changes the shape of the lens so the eye can focus.
- The choroid - a layer of tissue that is in the back of the eye, next to the retina, that makes a picture. Choroidal melanomas are the most common type of ocular melanoma.
Melanoma of the skin increased in frequency over the last several decades, while such a trend is less evident with ocular melanoma. Ocular melanoma occurs in approximately 6 people per 1 million every year, while invasive melanoma of the skin occurs in approximately 1 in 50 people per year.
About 6 people per 1 million are diagnosed with ocular melanoma in the U.S. every year. The incidence is similar in other Caucasian populations worldwide. Ocular melanoma accounts for approximately 5-12% of all melanoma cases. Some studies suggest that fair skin type is a risk factor for ocular melanoma.
Melanoma is typically classified by clinical characteristics, such as depth, ulceration and site of origin. However, in the past several years, mutations in certain proteins are allowing scientists to further define the melanoma at the molecular level.
Ocular melanoma generally lacks mutations in the following genes: BRAF, NRAS, and KIT. In addition to genetic profiling of the primary tumor, additional genes have recently been identified in ocular melanoma as being mutated. The most common mutations currently described in ocular melanoma are the GNAQ and GNA11 genes. About 50% of people will have the GNAQ mutation and around another 23% will have the GNA11 mutation. BAP1 is also a relatively common mutation.
Researchers and specialists are currently working to understand the implications of these genetic mutations, and clinical trials are ongoing to identify systemic treatments to impact these mutated genes. Ocular melanoma has distinct genetic alterations and a strong tendency to metastasize (spread) to the liver.
Learn about the different treatment options by visiting the ocular melanoma treatment section.