Retinoblastoma is an eye cancer that develops in the first years of life – in the first 24 months of life – and originates from the immature retina. Retinoblastoma is the most common intraocular malignancy in children.

In 60% of cases, retinoblastoma affects only one eye; if instead it affects both eyes, the onset is earlier.

With timely diagnosis, more than 95% of retinoblastoma patients recover completely.

To date, the causes of this tumor are unknown, but the mechanisms now appear clear: retinoblastoma is in fact one of the first tumors to be associated with genetic mutations. The onset is due to a defective gene that causes the cells of the retina to multiply rapidly and without any control.

The gene responsible for retinoblastoma is called Rb1; in most unilateral forms, the child is not a carrier of the Rb1 mutation. In the event of a mutation in the Rb1 gene, the protein no longer functions and the cells are free to grow in an uncontrolled way.

In light of the above, two forms of retinoblastoma are recognized today:

  • hereditary
  • sporadic

Symptoms of Retinoblastoma

Patients usually present with leukocoria, which is a white reflection of the pupil; less frequently, patients experience inflammation of the eye or impaired vision.

Strabismus is the second most frequent disorder, but other symptoms may show, such as:

  • poor eyesight
  • aches
  • redness of the white part of the eye
  • differences in the size of the eyeballs
  • a pupil that does not shrink

Retinoblastoma Therapy and Prevention

There are various types of treatment: the most suitable choice depends on the extent of the disease. If the tumor is not extensive, elimination by laser therapy, thermotherapy or cryotherapy is chosen.

If, on the other hand, the retinoblastoma is more extensive, the specialist may decide to intervene with chemotherapy or brachytherapy.

In the case of familial cancer, it is essential to carry out a genetic study on family members who may undergo an antenatal diagnosis. In fact, there are genetic investigations to be carried out during pregnancy that allow us to know the risk of developing retinoblastoma. Likewise, it is good to schedule specialist visits from birth.