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Eye melanoma and the BAP1 gene: what families should know | CION Cancer Clinics
Eye melanoma, or uveal melanoma, is one of the main cancers linked to an inherited BAP1 fault. Most people with eye melanoma do not carry one, but in BAP1 families it is often the first cancer to appear. This page explains which clues point to an inherited cause, what a carrier's eye check involves, what the report words mean and which symptoms need same-day care. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
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Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
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The short answer
How is eye melanoma linked to the BAP1 gene?
Melanoma of the eye, also called uveal melanoma, is one of the main cancers that an inherited BAP1 fault makes more likely. Most people with eye melanoma do not carry a BAP1 fault. In families that do, it is often the first cancer to appear, and it is the reason carriers are offered regular eye checks.
What eye melanoma actually is
It grows from pigment cells inside the eye, most often in the layer at the back of the eye called the choroid. It is not a skin melanoma that has spread, and it cannot be seen in a mirror. Small tumours usually cause no symptoms and are found by an eye doctor looking through a widened pupil.
Why the BAP1 link matters
If an eye melanoma is caused by an inherited fault, the person's other organs and their relatives are also at risk. That changes what happens after treatment. Checks for kidney, skin and other cancers may be added, and brothers, sisters and children can be offered a test for the same fault.
Eye melanoma is rarer in people with brown eyes and darker skin, but it does occur, and carriers need checks either way.Reading the pattern
What makes an inherited cause more likely?
No single clue proves a BAP1 fault. These are the things a counsellor looks for when deciding whether a blood test is worth doing.
A younger age
Eye melanoma usually appears in later life. Diagnosis at a younger age than usual makes an inherited cause more worth considering.
The family pattern
Relatives on the same side with eye melanoma, mesothelioma, kidney cancer or skin melanoma. Any two of these in one family raise the question.
Worth mentioning
- Cancer of the lung lining or abdominal lining
- Kidney cancer at a young age
- Several skin cancers in one person
More than one cancer in the same person
Someone who has had eye melanoma and later develops a second BAP1-type cancer is a strong reason to test. So are small, raised, skin-coloured bumps on the skin, which a dermatologist can check.
What the tumour shows
Many eye melanomas lose BAP1 inside the tumour only, which says something about how the tumour may behave. It does not show an inherited fault. Only a blood test can answer that.
A tumour result and a blood result answer two different questions.Not sure whether this applies to you?
Ask an oncologistOn the day
What happens at a BAP1 eye check?
Drops to widen the pupils
The drops take a little while to work and blur your vision for a few hours. Bring sunglasses, and do not plan to drive or ride a two-wheeler home.
A look at the back of the eye
The eye doctor uses a bright light and a lens to examine the retina and the choroid beneath it. It is not painful, though the light can feel dazzling.
Photographs and scans
Photographs of the back of the eye, and sometimes an ultrasound through the closed eyelid, record any freckle or spot. These become the baseline for next time.
Comparing with last time
Change is what matters most. A spot that grows, thickens or leaks fluid is examined more closely. Keep copies of every photograph and report, especially if you change hospitals.
On your report
What do the words on an eye report mean?
- Uvea
- The middle layer of the eye, which includes the coloured iris and the choroid. Uveal melanoma starts here.
- Choroid
- A layer full of blood vessels at the back of the eye, beneath the retina. It is the most common place for eye melanoma to start.
- Choroidal naevus
- A freckle inside the eye. These are common and almost always harmless, but in a BAP1 carrier they are photographed and watched for change.
- Dilated eye examination
- An eye check done after drops have widened the pupils, so the doctor can see the whole back of the eye. A routine spectacle test is not the same.
- Ocular ultrasound
- An ultrasound of the eye, done through the closed eyelid. It measures how thick a spot is, which helps tell a freckle from a tumour.
- BAP1 loss in the tumour
- A lab finding that the tumour has switched BAP1 off. It is common, is linked to how the tumour behaves, and is not the same as the inherited syndrome.
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One thing that cannot wait
If you suddenly see a dark shadow or curtain moving across your vision, a sudden shower of new floaters, flashes of light, or you lose vision in one eye, see an eye doctor the same day. These can mean the retina is coming away from the back of the eye, which can happen with or without a tumour. Go to an eye hospital's emergency service rather than waiting for your routine check.
Being straight with you
What this page cannot tell you
It cannot tell you whether a spot in your eye is harmless. That needs an eye specialist, ideally one who sees many retina and eye tumour cases, and often a series of photographs over time. It also cannot tell you how an existing eye melanoma will behave. That depends on its size, where it sits and what tests on the tumour show.
It cannot interpret your genetic result
A BAP1 change on a report may be classed as harmful, possibly harmful or uncertain. What your specific variant means is a question for the counsellor who ordered the test. The evidence on BAP1 is still young, and studies so far are small.
Who this does not apply to
Most people with eye melanoma have no inherited fault, especially when it appears in later life with no family pattern. Most people with a freckle inside the eye have nothing to worry about. If neither you nor your family has a BAP1 fault or the pattern above, ordinary eye care is enough.
From a district, ask whether your local eye doctor can share photographs with the specialist, so not every check needs the journey.Commonly believed
What do people get wrong about eye melanoma and BAP1?
"Eye melanoma is skin cancer that has spread to the eye."
It starts inside the eye, from the eye's own pigment cells. It behaves differently from skin melanoma and is treated differently.
"My eyesight is perfect, so my eyes must be healthy."
Small tumours at the back of the eye rarely affect vision. They are found by looking, which is why carriers have dilated checks even when they see well.
"Indians with brown eyes do not get eye melanoma."
It is less common, not absent. In a BAP1 family, the inherited fault matters more than eye colour, so checks are still advised.
"The tumour lost BAP1, so my children will get it."
Loss inside the tumour is common and is not inherited. Only a blood test for the inherited fault can say whether relatives are at risk.
Questions we are asked
Common questions about eye melanoma and BAP1
What are the symptoms of eye melanoma?
Often there are none, and the tumour is found at an eye check. When symptoms occur they include blurred vision, flashes, floaters, a shadow in part of the vision, or a dark spot on the coloured part of the eye that is growing. Any of these needs a prompt eye examination.
How often should a BAP1 carrier have eye checks?
Most expert plans suggest a dilated eye examination once a year, sometimes with photographs or ultrasound. The age to start and any changes to the timing are set by your team. Keep the dates in writing so a year does not quietly become three.
Which doctor should do the eye check?
An ophthalmologist, ideally a retina or eye tumour specialist, who knows you carry a BAP1 fault. A spectacle test at an optician is not enough. If you are not sure where to go, call the CION helpline and someone will point you to the right clinic.
I have a freckle inside my eye. Should I worry?
Freckles inside the eye are common and almost always harmless. In a BAP1 carrier, they are photographed and measured, then compared at each visit. Growth, thickening or fluid around the spot leads to a closer look, not automatically to treatment.
I have eye melanoma. Should I have a BAP1 blood test?
Ask for a genetics referral if you were diagnosed young, have had another BAP1-type cancer, or have relatives with eye melanoma, mesothelioma, kidney cancer or skin melanoma. Without any of these, the chance of an inherited fault is low, and a counsellor will say so.
Is eye melanoma treated differently in a carrier?
The eye tumour is usually treated the same way, often with radiation or surgery depending on its size. What changes is everything around it: checks for other BAP1 cancers, and testing offered to relatives.
Can eye melanoma spread?
Yes. When it spreads, it most often goes to the liver, sometimes years later. That is why follow-up after treatment includes liver checks planned by your oncologist. The risk varies a lot between tumours, and tests on the tumour help estimate it.
Do children in a BAP1 family need eye checks?
Eye melanoma in childhood is very rare, even in carriers. Checks usually begin in the teenage years or early adult life. Whether and when to test a child is a decision to make with your counsellor, balancing earlier checks against the child's own choice.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- National Cancer Institute — Intraocular (Uveal) Melanoma Treatment (PDQ) - Patient Version
- GeneReviews (NCBI Bookshelf) — BAP1 Tumor Predisposition Syndrome
- MedlinePlus Genetics — BAP1 tumor predisposition syndrome
- NHS — Eye cancer
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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Wondering whether an eye melanoma in your family is inherited?
Tell us who was diagnosed, at what age, and what other cancers the family has had. We will help you decide whether a genetics referral is worth making and arrange it if it is. One helpline serves every CION centre.