Understanding Eye Cancer: Types, Signs, and Treatment
Understanding Eye Cancer
Eye cancer refers to any malignancy that begins in the structures of the eye or its surrounding tissues. Cancers can form in the eyeball itself, the orbit (the bony socket around the eye), or the adnexal structures such as the eyelids and tear glands. Some eye cancers start in the eye, while others spread to the eye from cancers elsewhere in the body.
The two most significant primary eye cancers are uveal melanoma in adults and retinoblastoma in children. Each has distinct causes, behaviors, and treatment approaches.
Uveal melanoma is the most common cancer that starts inside the eye in adults. It develops from pigment-producing cells called melanocytes within the uveal tract, the middle layer of the eye wall. The uveal tract includes the choroid (the blood vessel layer beneath the retina), the ciliary body (the structure that controls the lens), and the iris (the colored part of the eye).
Choroidal melanoma is the most frequent form, followed by melanoma of the ciliary body and then the iris. Approximately 3,200 new eye and orbit cancers, mainly melanomas, are estimated in the United States each year, with about 1,720 in males and 1,480 in females (American Cancer Society, 2024). Despite being the most common primary intraocular cancer in adults, uveal melanoma remains rare, affecting roughly 5 per 1 million people annually (American Cancer Society, 2024).
Retinoblastoma is a cancer of the retina that primarily affects young children. It accounts for about 3% of all childhood cancers, with approximately 300 to 350 new cases diagnosed each year in the United States (American Cancer Society, 2024). The age-adjusted annual incidence is 18.4 cases per 1 million children aged 0 to 4 years in the United States (American Cancer Society, 2024).
Retinoblastoma is caused by mutations in the RB1 gene, which normally helps control cell growth. When this gene is altered, retinal cells can multiply without restraint and form tumors. About 4 out of 10 children with retinoblastoma have the heritable form, meaning the RB1 gene change is present throughout the body (American Cancer Society, 2024). Heritable retinoblastoma is more likely to affect both eyes and to develop before a child's first birthday.
All cancers begin when normal cells develop DNA errors that cause uncontrolled growth. In uveal melanoma, mutations in the DNA of melanocytes cause these pigment cells to multiply and collect in or on the eye, forming a tumor. In retinoblastoma, inherited or spontaneous changes in the RB1 gene remove a key brake on cell division in the developing retina.
Because the eye contains many different cell types, cancers can also arise in other structures. Conjunctival melanoma affects the clear membrane covering the white of the eye, and lymphoma can develop inside the eye or orbit. However, uveal melanoma and retinoblastoma are by far the most studied and most common primary eye cancers.
Who Is Affected and Risk Factors
Uveal melanoma most commonly affects people in their 60s. Several factors increase the risk of developing this cancer.
- Fair skin or light-colored eyes, such as blue or green
- Inability to tan or a history of sunburn
- Certain inherited skin conditions that cause abnormal moles
- Abnormal skin pigmentation involving the eyelids
- Smoking
- Prolonged exposure to natural or artificial sunlight, particularly for conjunctival melanoma
The primary risk factor for retinoblastoma is a change in the RB1 gene. When this mutation is inherited from a parent, a child has a higher likelihood of developing tumors in both eyes. Heritable retinoblastoma can also increase the risk of certain other cancers later in life.
Children with no family history can still develop retinoblastoma through a spontaneous gene mutation that occurs during early development. In these cases, only one eye is typically affected.
Adults with light skin, light eyes, or a family history of melanoma should be aware of their elevated risk. Parents with a personal or family history of retinoblastoma should discuss genetic testing and early screening with their child's doctor. Because eye cancers can develop without obvious symptoms, routine dilated eye examinations remain important for people of all ages.
Signs and Symptoms
Many uveal melanomas develop in the back of the eye where they cannot be seen in a mirror. Because of this, they often do not cause early signs or symptoms. When symptoms do occur, they may include blurred vision, flashes of light, distortion of straight lines, floaters, or a dark spot on the iris.
Because most eye melanomas form in a part of the eye you cannot see, they can be difficult to detect on your own. Many are discovered during a routine dilated eye examination before a patient notices any vision changes.
The most recognizable sign of retinoblastoma is leukocoria, a white glow or reflection in the pupil. Parents often first notice this in flash photographs, where the affected eye appears white instead of the typical red reflex. This is sometimes described as a cat's eye reflex.
Other warning signs include strabismus (crossing or misalignment of the eyes due to reduced vision from the tumor), redness of the eye, and swelling. If a tumor invades the front structures of the eye, it can cause increased eye pressure, inflammation, and a visibly abnormal appearance.
Any sudden change in vision, a new dark spot on the iris, or a white glow in a child's pupil warrants prompt evaluation. See a retina specialist or go to the emergency room immediately if you or your child experience sudden vision loss, new flashes of light, or a curtain-like shadow across the field of vision. Early detection can be critical for preserving vision and life.
Diagnosis and Testing
A thorough dilated eye examination is the first step in diagnosing most eye cancers. During this exam, a retina specialist uses special lenses and instruments to look at the inside of the eye, including the retina, choroid, and other structures. Many uveal melanomas and retinoblastomas are first detected this way, sometimes before a patient has any symptoms.
Several imaging tests help confirm a diagnosis and determine the size, shape, and location of a tumor. Ultrasound of the eye uses sound waves to create a picture of the tumor's thickness and internal features. Optical coherence tomography (OCT) provides high-resolution cross-sectional images of the retina. Fluorescein angiography uses a special dye to photograph blood vessels in the retina and choroid.
For more detailed evaluation, magnetic resonance imaging (MRI) of the orbits and brain may be ordered. In children suspected of having retinoblastoma, MRI helps assess whether the tumor has extended beyond the eye.
In some cases, a small tissue sample may be taken from a tumor to confirm the diagnosis and identify specific genetic features. For uveal melanoma, genetic testing of tumor cells can help predict whether the cancer is likely to spread to other parts of the body, which guides treatment planning and follow-up monitoring.
For retinoblastoma, blood tests can detect changes in the RB1 gene. Identifying a heritable mutation allows doctors to screen siblings and future children early, when treatment is most effective.
Treatment Options
Treatment for uveal melanoma depends on the size, location, and extent of the tumor. Radiation therapy, particularly plaque brachytherapy (a small radioactive disc placed on the wall of the eye near the tumor), is one of the most common approaches. This delivers targeted radiation to the tumor while limiting damage to surrounding tissues.
Other options include laser tumor ablation, which can be effective during vitrectomy surgery (a procedure to remove the gel inside the eye), and photodynamic therapy. For very large tumors or those that do not respond to other treatments, enucleation (surgical removal of the eye) may be necessary. A retina specialist and an ocular oncologist work together to determine the best approach for each patient.
When uveal melanoma spreads beyond the eye, treatment options have historically been limited. In January 2022, the FDA approved KIMMTRAK (tebentafusp-tebn) as the first therapy specifically for adults with unresectable or metastatic uveal melanoma who are HLA-A*02:01 positive. KIMMTRAK is the first T-cell receptor therapeutic approved by the FDA.
In the pivotal clinical trial, 73% of patients who received KIMMTRAK were alive one year after the study began, compared with 59% of patients given other treatments. This represented a reduction of roughly half in the risk of death (FDA, 2022). This approval marked a significant advance for patients with advanced uveal melanoma.
Treatment for retinoblastoma aims to eliminate the cancer while preserving as much vision as possible. For smaller tumors, laser treatment (transpupillary thermotherapy) or cryotherapy (freezing treatment) may be sufficient. Chemotherapy can be delivered in several ways depending on the tumor size and location.
- Intra-arterial chemotherapy delivers medication directly to the eye through a tiny catheter threaded into the blood vessel that supplies the eye. This technique, refined since the mid-2000s, has become an important treatment option.
- Intravitreal chemotherapy involves injecting a small dose of medication directly into the gel inside the eye to target tumor seeds that have spread within the eye cavity.
- Systemic chemotherapy, given through a vein, may be used when both eyes are affected or when the cancer has spread beyond the eye.
In some cases, the most effective way to eliminate the cancer and protect a child's life is enucleation, the surgical removal of the affected eye. This is typically considered when the tumor is very large, fills most of the eye, or has not responded to other treatments. After enucleation, a prosthetic eye can be fitted that closely matches the appearance of the other eye.
More than 9 out of 10 children with retinoblastoma in the United States are cured, with survival rates exceeding 95% in high-income countries (American Cancer Society, 2024). Advances in chemotherapy delivery have allowed more children to keep their eyes compared with earlier decades.
What to Expect
Treatment experiences vary depending on the type of eye cancer and the therapy chosen. Radiation plaque treatment for uveal melanoma typically involves a short surgical procedure to place the plaque, followed by a few days of radiation delivery, and then a second brief procedure to remove it. Most patients can return to normal activities within a few weeks.
Children undergoing chemotherapy for retinoblastoma may require multiple treatment sessions over several months. Intra-arterial chemotherapy sessions are performed under anesthesia and usually take about an hour. Your child's medical team will monitor for side effects and adjust treatment as needed.
Regular follow-up examinations are essential after treatment for any eye cancer. For uveal melanoma, monitoring includes periodic dilated eye exams, imaging of the eye, and screening for metastatic disease, often with liver imaging, since uveal melanoma most commonly spreads to the liver.
Children treated for retinoblastoma need close follow-up for several years to watch for tumor recurrence or new tumors, especially in cases of heritable disease. Long-term monitoring for secondary cancers may also be recommended for children with heritable retinoblastoma.
The impact on vision depends on the tumor's size, location, and the type of treatment used. Small tumors that are far from the central retina may be treated with little effect on vision. Tumors near the macula (the part of the retina responsible for central vision) or tumors requiring extensive treatment may result in significant vision changes.
A retina specialist can help set realistic expectations about visual outcomes and connect patients with vision rehabilitation services when needed.
Living with Eye Cancer
A diagnosis of eye cancer can be frightening for patients and families. The rarity of these conditions can make it feel isolating. Connecting with support groups, counselors, or organizations dedicated to ocular oncology can provide comfort and practical information. For parents of children with retinoblastoma, peer support from other families who have navigated similar experiences can be especially valuable.
Ongoing monitoring is a key part of living with eye cancer. For uveal melanoma survivors, regular liver imaging and blood tests help detect any spread early, when additional treatment may be most effective. For retinoblastoma survivors, particularly those with the heritable form, awareness of the increased risk for other cancers throughout life is important.
Maintaining open communication with your medical team and keeping all follow-up appointments helps ensure that any changes are caught as early as possible.
Wearing sunglasses that block ultraviolet (UV) light and avoiding prolonged exposure to intense sunlight may help reduce the risk of certain eye cancers, particularly conjunctival melanoma. Routine dilated eye examinations remain the best tool for early detection of eye tumors, even for people without known risk factors.
When to See a Retina Specialist
You should see a retina specialist promptly if you notice a new dark spot on the iris, persistent blurred vision in one eye, distortion of straight lines, unexplained flashes of light, or new floaters. In children, a white glow in the pupil, crossing of the eyes, or unexplained eye redness should be evaluated without delay.
Because many eye cancers develop without early symptoms, routine comprehensive eye exams play a vital role in detection. Adults should follow recommended schedules for dilated eye exams, and any family history of retinoblastoma or ocular melanoma should be shared with your eye care provider. Early detection can make a meaningful difference in treatment options and outcomes.
Patients receiving cancer treatments for any type of cancer should be aware of potential ocular side effects. Research from Stanford University presented at the American Academy of Ophthalmology 2024 meeting showed that mirvetuximab soravtansine, a drug used for ovarian cancer, caused decreased vision due to corneal damage in more than 55% of patients (AAO, 2024). If you are receiving any cancer therapy and notice vision changes, report them to your oncologist and see a retina specialist for evaluation.
Questions and Answers
Uveal melanoma can spread to other organs, most commonly the liver. This is why regular follow-up imaging is a key part of care after treatment. Retinoblastoma can also spread beyond the eye if not treated promptly, though this is uncommon in countries with access to modern treatment. Genetic testing of uveal melanoma tumors can help predict the likelihood of spread and guide monitoring plans.
About 4 out of 10 children with retinoblastoma have the heritable form, caused by a gene change present in all cells of the body (American Cancer Society, 2024). This form can be passed from parent to child and increases the risk of tumors in both eyes. Genetic testing and counseling are available for families affected by retinoblastoma to assess the risk for siblings and future children.
The outlook for retinoblastoma in the United States is very favorable. More than 9 out of 10 children are cured, and survival rates exceed 95% in high-income countries (American Cancer Society, 2024). Advances in targeted chemotherapy delivery have also improved the chances of preserving the affected eye. Early diagnosis and treatment remain the most important factors in achieving the best outcomes.
Yes. KIMMTRAK (tebentafusp-tebn) was approved by the FDA in January 2022 as the first therapy specifically designed for adults with unresectable or metastatic uveal melanoma who have the HLA-A*02:01 tissue type (FDA, 2022). In clinical trials, it significantly improved survival compared with other available treatments. Research into additional targeted therapies and immunotherapies for uveal melanoma continues.
If you have risk factors for uveal melanoma, such as light skin, light-colored eyes, or a family history of melanoma, discuss an appropriate screening schedule with a retina specialist. Annual dilated eye examinations are a general recommendation, but your specialist may suggest more frequent visits based on your individual risk profile. Children with a family history of retinoblastoma may need exams as frequently as every few weeks during infancy and early childhood.