The causes of intraocular melanoma are still not fully understood, but multiple factors are known to increase the risk of developing this form of cancer.

1. Genetic Factors

Genetics play a significant role in the development of intraocular melanoma. The presence of certain genetic mutations increases the likelihood of developing the disease. These mutations are often found in the BAP1 gene, which is associated with tumor suppressor functions. Mutations in the BAP1 gene are linked to familial uveal melanoma and several other cancers.

2. Fair Skin and Light-Colored Eyes

People with fair skin and light-colored eyes (especially those with blue, green, or gray eyes) are at higher risk of developing intraocular melanoma. These individuals generally have less melanin in the eye, which may provide less protection against UV radiation. Melanin absorbs and dissipates UV rays, and lower levels of melanin increase the vulnerability to UV-induced DNA damage.

3. UV Radiation

Although the direct link between UV radiation and intraocular melanoma is not as strong as for skin melanoma, studies have suggested that long-term exposure to UV radiation may increase the risk. UV rays may damage the melanocytes in the uvea, leading to mutations and cancer formation. However, the risk associated with UV exposure is still being studied, and the results are inconclusive compared to skin melanoma.

4. Pre-existing Eye Conditions

1. Ocular Nevi: A person with nevi (moles) or other pigmented lesions in the eye is at greater risk of developing intraocular melanoma. These nevi are typically benign, but in some cases, they can develop into malignant melanomas.

2. Ocular Melanocytosis: Also known as nevus of Ota, this condition involves extra pigment in the eye, which increases the risk of melanoma.

3. Ciliary Body Melanocytic Tumors: Tumors located in the ciliary body of the eye can develop into melanoma over time.

5. Age and Gender

Intraocular melanoma is more common in individuals over the age of 50, with the highest incidence occurring between 50 and 70 years. It is slightly more prevalent in men than in women, though both genders can be affected.

6. Family History

A family history of melanoma or other eye conditions linked to melanoma increases the risk. Individuals with a first-degree relative who has had ocular melanoma are at an elevated risk.

7. Occupational Exposures

Certain industrial exposures such as wood dust, asbestos, or chemical fumes may contribute to an increased risk of ocular melanoma. These chemicals can irritate or damage eye tissues, potentially leading to cancerous changes in the eye.

Intraocular melanoma often has subtle symptoms, especially in the early stages, and may go unnoticed until it has advanced. Common symptoms include:

1. Blurred or Distorted Vision

As the tumor grows, it can affect the retina or other structures of the eye, leading to blurry or distorted vision. Lines may appear wavy, or central vision may become impaired.

2. Floaters

Floaters are small specks or strands that float in the field of vision. These are caused by the tumor obstructing the normal flow of the vitreous humor, the gel-like substance inside the eye.

3. Flashes of Light

Flashes of light (photopsia) may be observed when the tumor interferes with the retina, or due to traction on the vitreous body. These flashes can be disturbing, and if experienced frequently, they should be evaluated by an ophthalmologist.

4. A Dark Spot on the Iris

Intraocular melanoma may cause a dark spot or change in the color of the iris (the colored part of the eye). This is particularly true when the tumor is located in the iris.

5. Vision Loss

If the melanoma is large or located in the central retina or optic nerve, vision loss can occur. This can range from partial loss of vision to complete blindness in the affected eye.

6. Eye Pain

In advanced cases, intraocular melanoma can lead to pain in the affected eye. This pain might be accompanied by swelling, pressure in the eye, or a sensation of fullness.

7. Bulging of the Eye

In some cases, the tumor may cause exophthalmos (bulging of the eye) if it grows large enough or spreads to the surrounding tissues.

Diagnosing intraocular melanoma requires a combination of clinical evaluation, imaging, and biopsy. Early diagnosis is crucial for successful treatment.

1. Comprehensive Eye Exam

A thorough eye exam is essential for detecting signs of intraocular melanoma. This includes dilating the pupils to examine the retina, iris, and other parts of the eye.

2. Ultrasound Imaging

An ultrasound of the eye can be used to assess the size, shape, and location of the tumor. It is a non-invasive and effective imaging tool, especially for tumors deep within the eye.

3. Fluorescein Angiography

In fluorescein angiography, a dye is injected into the bloodstream, and special imaging is used to visualize the blood vessels in the eye. This helps identify any abnormalities or irregularities caused by the tumor.

4. Optical Coherence Tomography (OCT)

OCT is a non-invasive imaging technique that provides high-resolution, cross-sectional images of the eye. This test is particularly useful for observing the tumor’s effect on the retina and optic nerve.

5. Biopsy

A biopsy of the tumor may be performed if the diagnosis is unclear. This is typically done by removing a small sample of tissue for histopathological examination. The biopsy confirms whether the tumor is cancerous and helps determine the type of melanoma.

6. Genetic Testing

Genetic tests, such as the DecisionDx-UM test, help assess the gene expression profile of the melanoma. This test can provide information about the risk of metastasis and help guide treatment decisions.

Treatment for intraocular melanoma depends on the size, location, and spread of the tumor, as well as the overall health of the patient. Several options are available:

1. Radiation Therapy

Radiation therapy is the most commonly used treatment for intraocular melanoma. Types of radiation therapy include:

1. Plaque Brachytherapy: A small, radioactive plaque is placed on the surface of the eye next to the tumor. This allows high doses of radiation to be delivered directly to the tumor.

2. Proton Beam Therapy: Proton beams are used to precisely target the tumor with minimal damage to surrounding healthy tissue.

2. Laser Therapy

1. Transpupillary Thermotherapy (TTT): This laser treatment uses infrared light to heat and destroy the tumor tissue. It is typically used for smaller tumors.

3. Surgery

1. Tumor Resection: If the tumor is localized and accessible, it may be surgically removed.

2. Enucleation: In cases where the tumor is large or has spread significantly, the entire eye may need to be removed to prevent the cancer from spreading.

4. Chemotherapy

Chemotherapy is typically used when melanoma has spread beyond the eye. The treatment may include oral or intravenous chemotherapy. However, chemotherapy is less effective for intraocular melanoma compared to other forms of melanoma.

5. Immunotherapy

1. Tebentafusp (Kimmtrak), a newly approved immunotherapy drug, has shown promise in treating metastatic intraocular melanoma by stimulating the immune system to recognize and attack the melanoma cells.

6. Targeted Therapy

1. Targeted therapies are drugs that target specific molecules involved in the growth and survival of cancer cells. Intraocular melanoma treatments are still being researched in this area, with BRAF inhibitors being explored for their role in treating metastatic uveal melanoma.

Although some risk factors cannot be changed, certain preventive measures can help reduce the risk of intraocular melanoma:

1. Regular Eye Exams: Annual eye exams are critical for individuals at higher risk, such as those with a history of ocular nevi or family history of melanoma.

2. UV Protection: Wearing sunglasses that block UV rays can help protect the eyes from potential radiation damage.

3. Healthy Lifestyle: Maintaining a healthy diet and avoiding smoking can improve overall eye health.

Post-treatment management includes regular monitoring for tumor recurrence and metastasis, especially to the liver, which is the most common site of spread for intraocular melanoma.

In addition to the direct impact of the tumor itself, treatment for intraocular melanoma can result in the following complications:

1. Vision Loss: Surgery and radiation can lead to partial or total vision loss in the affected eye.

2. Glaucoma: Elevated pressure in the eye due to treatment or tumor growth.

3. Retinal Detachment: Separation of the retina from the back of the eye, which may lead to blindness.

4. Liver Metastasis: The most common site for melanoma to spread after it has been treated.

Living with intraocular melanoma requires adjustments, particularly regarding vision and ongoing health monitoring:

1. Vision Rehabilitation: Patients may need assistive devices and vision therapy.

2. Psychological Support: Coping with the emotional aspects of cancer diagnosis and treatment is essential. Support groups and counseling can be helpful.

3. Regular Monitoring: Continuous follow-up care, including imaging and blood tests, is necessary to detect recurrence or metastasis.

1. What is Intraocular Melanoma?