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What is retinoblastoma?

Retinoblastoma is a cancer of the eye in children. It originates from the retina, the light sensitive layer, in eye. It is the commonest eye tumor of the eye in childhood. This tumor may involve one (75% of cases) or both (25% of cases) eyes in a child. Untreated, retinoblastoma is almost always fatal, hence the importance of early diagnosis and treatment

Is it hereditary?

Yes in some cases it may be hereditary. Majority of cases (90%) has no family history of such disease; while a small percentage (10%) of newly diagnosed cases have other family members with retinoblastoma.

Of all the cases of retinoblastoma, in 60% of cases it does not get transmitted to the next generation, while in 40% of cases it may get transmitted in the next generation. Therefore it is important to have a genetic counseling

before having a baby to determine the risk of another child getting the same disease. Also, the siblings and children of the patients with retinoblastoma should be examined periodically in their childhood to detect any possible tumor early.


Retinoblastoma occurs when a cell of the growing retina develops a mutation, causing it to grow out of control and become cancerous.

Sometimes this mutation develops in a child whose family has never had eye cancer, but other times the mutation is present in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. They will therefore have a high risk of developing retinoblastoma themselves.

One or both eyes may be affected. A visible whiteness in the pupil may be present. Blindness can occur in the affected eye. The eyes may appear crossed. The tumor can spread to the eye socket through the optic nerve. It may also spread to the brain, lungs, and bones. This is a rare tumor, except in families that carry the RB gene mutation.


  • A white glow in the eye that is often seen in photographs taken with a flash; instead of the typical "red eye" from the flash, the pupil may appear white or distorted.
  • White spots in the pupil
  • Crossed eyes
  • A red, painful eye
  • Poor vision
  • The iris may be a different color in each eye.

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Exams and Tests

  • An examination of the eye with dilation of the pupil
  • A CT scan or MRI of the head to evaluate tumor and possible spread
  • An ultrasound of the eye (head and eye echoencephalogram)

What are the treatment options?

The aim of treatment in retinoblastoma, in order of priority, is to save the life, eye, sight and cosmesis of the child.

There are many treatment modalities for this tumor. These are: -
  • Enucleation: - This means removal of the eye. The eye with the tumor is removed and is sent for a pathology report. The space is replaced by an artificial implant made of plastic, rubber or coral. The child is fitted with prosthesis or artificial eye, made to match the other eye. This artificial eye, of course, does not have any vision.
  • External beam radiation: - as an alternative to enucleation, this method of giving radiation treatment to the eye may treat the tumor while preserving the eye. As the tumor is very radiosensitive, this treatment method is very effective. Though the radiation may cause damage to the surrounding structures of the eye, e.g., lens (cataract), lacrimal system (dry eye), orbit (bone maldevelopment) etc. It also increases the chance of developing secondary tumor of the bone, especially in children with tumor involving both eyes.
  • Localized Plaque radiation therapy: - This method involves applying radioactive plaque close to the tumor on the sclera, and thus gives the radiation therapy in a localized area. It significantly decreases the local complications associated with radiation therapy.
  • Photocoagulation: - Laser treatment for the tumor is effective and safe for tumors that are smaller in size. In the right cases, this treatment may help in preserving eye as well as the sight of the child.
  • Cryotherapy: - this involves freezing of the tumor by applying a special probe on the external surface of the eye (sclera). This treatment is done under direct observation and is effective in saving the eye and sight in patients with small tumor.
  • Chemotherapy: - Treatment with anticancer drugs. There has been a recent preference towards treatment with systemic drugs as an additional treatment. The chemotherapy may decrease the size of the tumor and thus make it more amenable to local treatment like laser, cryotherapy and plaque radiation.

Which treatment option is the best?

The treatment of retinoblastoma is individualized for each patient. The treatment modality for a given child is decided based on many important factors. These are: -
  • Size of the tumor
  • Location of the tumor
  • Whether the tumor has spread
  • Status of the other eye
  • Associated complications like retinal detachment, glaucoma
  • Family history
  • The wishes and concerns of the parents
  • Availability of the facilities

As this is a difficult decision made based on many factors, it is advised to discuss with the treating ophthalmologist about the best treatment option for the concerned child. All the advantages and disadvantages of each option must be weighed before taking a decision. It is also important to discuss the rehabilitation and the cosmetic correction after the surgery.

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