Eye Melanoma: Symptoms, Types, Causes and Treatment

Eye melanoma, also known as ocular melanoma, is a rare but serious cancer that develops in the cells responsible for producing pigment in the eye. While it might not be as well-known as skin melanoma, it presents unique challenges due to its location and the critical function of the eye. Understanding its symptoms, forms, causes, and available treatments is crucial for early detection and effective management. This article synthesizes the latest research to offer a detailed, human-centered overview of eye melanoma.

Symptoms of Eye Melanoma

Eye melanoma can be difficult to detect early because it often grows in parts of the eye not visible from the outside, and symptoms may be subtle or absent until the disease has progressed. Prompt recognition of warning signs is vital for improving outcomes.

Symptom	Description	Prevalence/Risk	Source
Visual changes	Blurred vision, loss of vision, floaters	Common	4 8
Ocular mass	Visible dark spot or growth on iris/eye	Occasional	4 8
Ocular pain	Eye discomfort or pain	Rare	1 4
Inflammation	Redness, swelling, or inflammation	Uncommon	1
Hemorrhage	Bleeding inside the eye	Uncommon	1

Table 1: Key Symptoms

Recognizing the Signs

Early-stage eye melanoma is frequently asymptomatic. However, as the tumor grows, it may cause:

• Visual Changes: Blurred or reduced vision, sudden loss of vision, or the appearance of floaters (dark spots or lines drifting in the field of vision) are among the most reported symptoms. These changes are more prominent when the tumor is located near the retina or affects the central visual axis 4 8.
• Ocular Mass: A visible dark spot or growing mass on the iris (the colored part of the eye) can sometimes be seen. This is more likely with iris melanomas, which are more accessible to visual inspection 4.
• Eye Pain and Discomfort: Although less common, some patients may experience pain, redness, or swelling. This may result from tumor growth causing inflammation or increased intraocular pressure 1 4.
• Inflammation and Hemorrhage: In rare instances, initial signs may include ocular inflammation (such as episcleritis or uveitis) or intraocular hemorrhage. These symptoms tend to be more common in advanced or necrotic tumors 1.

When to Seek Medical Attention

Because many symptoms overlap with more benign eye conditions, annual eye examinations are vital for early detection—especially for those at higher risk. Any sudden or unexplained changes in vision, or new pigmented spots in the eye, should prompt immediate consultation with an eye care professional 4.

Types of Eye Melanoma

Eye melanoma is not a single disease but a group of related cancers that can arise in different parts of the eye. Understanding the distinctions is crucial for diagnosis, prognosis, and treatment planning.

Type	Location/Origin	Prevalence	Source
Uveal melanoma	Iris, ciliary body, choroid	Most common (90%)	4 5 8
Iris melanoma	Iris	Rare (4%)	4 8
Ciliary body	Ciliary body (middle uvea)	Less common (6%)	4 8
Choroidal	Choroid (back of uvea)	Most common site	4 5 8
Conjunctival	Conjunctiva (surface of eye)	Uncommon	4 6 9
Metastatic	Secondary from skin or elsewhere	Rare	2

Table 2: Eye Melanoma Types

Uveal Melanoma

• Definition: Uveal melanoma is the most prevalent form in adults, arising from melanocytes in the uveal tract, which includes the iris (front), ciliary body (middle), and choroid (back) 4 5 8.
• Distribution: Approximately 90% occur in the choroid, 6% in the ciliary body, and 4% in the iris 8.
• Significance: Tumors in the choroid are often asymptomatic until they become large or affect central vision.

Iris Melanoma

• Features: These tumors are located in the iris and are more likely to be detected early due to their visibility. The ABCDEF guide helps distinguish benign iris nevi from melanoma (Age, Blood, Clock hour, Diffuse, Ectropion, Feathery margins) 4.
• Prognosis: Generally, iris melanomas have a better prognosis compared to other uveal melanomas, partly due to earlier detection 4.

Ciliary Body Melanoma

• Location: Arises from the ciliary body, situated between the iris and choroid.
• Challenges: These tumors may go unnoticed until they grow large enough to cause symptoms, sometimes presenting with inflammation or hemorrhage 1 4.

Choroidal Melanoma

• Prevalence: The choroid is by far the most common site for ocular melanoma 5 8.
• Diagnosis: Often detected incidentally during eye exams, especially since early tumors may not cause symptoms.
• Diagnostic Aids: Tools like the TFSOM-UHHD mnemonic help distinguish small melanomas from benign nevi (Thickness, Fluid, Symptoms, Orange pigment, Margin, Ultrasound hollow, Halo absent, Drusen absent) 4.

Conjunctival Melanoma

• Origin: Develops on the conjunctiva, the transparent membrane covering the white of the eye.
• Behavior: This type is rare but can be aggressive, with potential for local recurrence and systemic spread via lymphatics 4 9.
• Detection: Often arises from primary acquired melanosis—a flat, pigmented lesion on the conjunctiva 4.

Metastatic Ocular Melanoma

• Source: Secondary tumors that have spread from a primary melanoma elsewhere (most commonly skin) 2.
• Characteristics: Tend to be multifocal and occur in younger patients compared to primary ocular tumors.

Causes of Eye Melanoma

The development of eye melanoma is influenced by a complex interplay of genetic, environmental, and individual risk factors. While some causes are well-established, ongoing research continues to uncover new insights.

Cause/Risk Factor	Details	Relative Risk/Notes	Source
Sunlight/UV Exposure	High UV exposure, lack of eye protection	Increased risk	7
Light eye color	Blue/green eyes vs. brown	Higher risk for light eyes	7 8
Fair skin	Fair complexion, inability to tan	Increased susceptibility	8
Genetic mutations	GNAQ, GNA11, BAP1, others	Affects prognosis	5 6 8
Oculodermal melanocytosis	Congenital pigmentary condition	Higher incidence	3 8
Pre-existing nevi	Iris, choroidal, or cutaneous nevi	Potential precursor lesions	4 8
Family history	Hereditary syndromes, BAP1 mutation	Elevated risk	8

Table 3: Causes and Risk Factors

Environmental and Lifestyle Factors

• Sunlight and UV Exposure: Studies indicate a clear association between increased exposure to sunlight, particularly without protection (sunglasses, hats), and higher risk of intraocular melanoma. People who spend more time outdoors and those from sunnier regions have elevated risk 7.
• Eye Color and Skin Type: Individuals with blue or green eyes, fair skin, and poor tanning ability are more susceptible. Brown-eyed individuals have a lower relative risk 7 8.

Genetic and Hereditary Factors

• Gene Mutations: Mutations in the GNAQ and GNA11 genes are frequently found in uveal melanomas, while BAP1 mutations are linked to worse outcomes. Conjunctival melanomas often carry mutations similar to skin melanoma, such as BRAF and TERT promoter mutations 5 6.
• Oculodermal Melanocytosis: This rare, congenital pigmentation disorder significantly increases the risk of developing uveal melanoma in the affected eye 3 8.
• Family History: Certain hereditary syndromes and familial mutations, especially in BAP1, are associated with an increased risk of ocular melanoma 8.

Pre-existing Ocular Conditions

• Nevi (Moles): The presence of eye nevi (benign pigmented lesions) in the iris or choroid can sometimes transform into malignant melanoma, particularly when specific risk factors (e.g., thickness, fluid, symptoms, orange pigment) are present 4 8.

Treatment of Eye Melanoma

Treatment of eye melanoma is tailored based on tumor size, location, type, and whether it has spread. Advances in therapy have improved local control, but the risk of metastasis—particularly to the liver—remains a major challenge.

Treatment Option	Indication/Use	Key Outcomes/Notes	Source
Plaque brachytherapy	Small/medium, uveal melanomas	Preserves vision, high control	8 10
Proton beam therapy	Alternative to brachytherapy	Effective, precise	8
Enucleation	Large or advanced tumors	Removes eye, definitive	5 8
Surgical excision	Conjunctival melanoma	Requires "no touch" technique	4 9
Radiation therapy	Intraocular/metastatic tumors	Palliative, preserves vision	2 8 10
Systemic chemotherapy	Metastatic disease	Limited efficacy	11
Chemoimmunotherapy	Metastatic uveal melanoma	Some survival benefit	11

Table 4: Treatment Approaches

Eye-Preserving Treatments

• Plaque Brachytherapy: A small radioactive disc is sewn onto the outside of the eye overlying the tumor. This technique is effective for small to medium uveal melanomas, offering high local control and preservation of vision. Most patients maintain baseline vision, though cataracts can develop as a side effect 8 10.
• Proton Beam and Other Radiation Therapies: For tumors not suitable for brachytherapy, external beam techniques like proton beam therapy offer high precision and efficacy 8.
• Conjunctival Melanoma Surgery: Wide excision using a "no touch" technique is critical to prevent recurrence and spread. Adjunctive therapies may include cryotherapy or topical medications 4 9.

Enucleation

• When Used: This is the removal of the affected eye, typically reserved for large tumors, those causing significant pain, or when vision cannot be preserved 5 8.
• Impact: While definitive, enucleation is psychologically and functionally impactful, so it is considered only when necessary.

Management of Metastatic Disease

• Radiation and Surgery: Palliative radiation can help control symptoms and preserve vision in cases where melanoma has spread to the orbit or other ocular structures 2.
• Systemic Chemotherapy and Chemoimmunotherapy: Unfortunately, traditional chemotherapy offers minimal benefit. Some regimens combining chemotherapy with immunotherapy (e.g., interferon) have shown modest response rates 11.
• Liver-Directed Therapies: Because metastasis to the liver is common, intra-arterial chemotherapy such as fotemustine has shown promise in select cases 11.

Surveillance and Follow-up

• Regular Monitoring: Because of the risk of recurrence and metastasis, patients require lifelong follow-up with imaging (e.g., liver scans) and eye exams 8 9.
• Multidisciplinary Approach: Management is best conducted by teams specializing in ocular oncology, medical oncology, and radiation therapy 5.

Conclusion

Eye melanoma is an uncommon but potentially devastating cancer that requires awareness, early detection, and specialized care. Here’s a concise summary of the main points:

• Symptoms can be subtle; regular eye exams are essential for early detection.
• Types include uveal (iris, ciliary body, choroid), conjunctival, and metastatic melanomas, each with distinct features and challenges.
• Causes are multifactorial, involving UV exposure, genetics, eye color, and pre-existing pigmentary conditions.
• Treatment is personalized, ranging from eye-preserving radiotherapies to surgical removal, with ongoing challenges in metastatic disease management.

For anyone at risk or experiencing concerning symptoms, seeking prompt ophthalmic evaluation is crucial. Ongoing research and advances in therapy continue to offer hope for better outcomes in this challenging disease.