Retinoblastoma is a cancer of the retina, the light-sensitive layer at the back of the eye. It affects babies and young children, nearly always under the age of 5, in one eye or in both.
When it is found while still confined to the eye, it is among the most treatable childhood cancers. The priorities are, in this order, to protect the child's life, then to save the eye, then to keep as much sight as possible. Sometimes removing the eye is the safest choice. About 4 in 10 children have the heritable form, which has consequences for the other eye, for later health and for relatives.
Symptoms
- A white glow in the pupil, often first seen in flash photographs
- A new squint or an eye that turns
- Poor vision or a child not following objects
- A red, painful or enlarged eye
- A change in the colour of the iris
- A family history of retinoblastoma
Causes and risk factors
The tumour forms when both copies of the RB1 gene stop working in a developing retinal cell. In the heritable form the first change is present in every cell of the body, either inherited from a parent or arising new at conception. These children tend to be diagnosed earlier, often have tumours in both eyes and carry a lifelong raised risk of other cancers. In the non-heritable form both changes occur in a single retinal cell and only one eye is affected. Nothing done during pregnancy causes it.
How it is diagnosed
- Examination under anaesthesia: A specialist ophthalmologist examines both eyes through dilated pupils, draws and photographs the tumours and assigns a group from A to E.
- Eye ultrasound: Shows the mass and the calcium within it.
- MRI of the orbits and brain: Checks the optic nerve and looks for a rare associated tumour in the pineal region. CT is avoided to spare the child radiation.
- No biopsy: A needle biopsy is not done, since it could spread tumour cells outside the eye.
- RB1 genetic testing: Performed on blood, and on tumour if the eye is removed, to identify the heritable form and guide screening of brothers and sisters.
Treatment options
- Focal therapy: Laser or freezing treatment for small tumours, repeated at examinations under anaesthesia.
- Intra-arterial chemotherapy: Melphalan delivered through a fine catheter into the artery of the eye. It has raised eye-salvage rates and is offered only in specialised centres.
- Systemic chemotherapy: Intravenous drugs to shrink tumours, used especially when both eyes are affected and in very young infants.
- Intravitreal chemotherapy: Injections into the eye for tumour seeds floating in the vitreous gel.
- Plaque brachytherapy: A small radioactive disc stitched to the eye wall for selected tumours. External beam radiotherapy is avoided where possible.
- Enucleation: Removal of the eye with an orbital implant, followed by a custom artificial eye. It is often the safest option for advanced disease in one eye, and the removed eye is examined for high-risk features.
- Genetic counselling and screening: Regular examinations of the other eye and of at-risk relatives from birth.
When it is urgent
A white pupil in a young child should be seen by an ophthalmologist within days, not weeks. A red, painful, swollen eye, or a child who becomes drowsy or vomits repeatedly, needs emergency care locally.
Travelling to Türkiye for treatment
Eye-preserving techniques such as intra-arterial and intravitreal chemotherapy exist in only a few centres per country, so travelling to one can be justified. Treatment is not a single visit. Expect examinations under anaesthesia every 3 to 4 weeks for many months and then at longer intervals for years. Speed matters at the start, so send photographs, the ultrasound and the MRI promptly. If removal of the eye has been advised for an advanced tumour, do not postpone it for long while looking for alternatives, because delay can allow spread beyond the eye.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
الأسئلة المتكررة
Will my child lose the eye?
It depends on the group at diagnosis. Small and medium tumours are usually treated with the eye kept. Very advanced eyes are often safer removed.
Will my child be able to see?
Vision depends on where the tumours lie in relation to the centre of the retina. Children with one healthy eye develop and function normally.
Are our other children at risk?
Possibly. RB1 testing tells you. Until a result is known, brothers and sisters have regular eye examinations from birth.
What does an artificial eye look like?
It is custom-painted to match the other eye and moves partly with it. Most people do not notice it.