What is retinoblastoma?
Retinoblastoma is a rare form of cancer in the retina of the eye that usually occurs in children under five. In about 40% of cases is caused by a hereditary retinoblastoma and the remaining 60% the cause is not hereditary. Also, if a patient with retinoblastoma is the first in the family, can be hereditary retinoblastoma. In the non-hereditary form retinoblastoma remains always limited to one eye. In the hereditary form are often affected both eyes. Approximately 15% of patients with retinoblastoma and sided with retinoblastoma who is not in the family, however, there is after all there is a genetic predisposition. It is therefore always advisable to do genetic testing to a possible genetic predisposition.
To be sure that the retinoblastoma is inherited or not, the ophthalmologist refers all children treated for retinoblastoma, the department of clinical genetics. Even with all adults in the past retinblastoom occurred can contact the department of clinical genetics. As in the past, genetic testing has been done, it may be worth it to re-do, since the techniques to detect a genetic predisposition still improve.
In hereditary retinoblastoma, there is a change (mutation) in the retinoblastoma (RB1 gene). Usually hereditary retinoblastoma establish through DNA testing.
People with hereditary retinoblastoma have a 50% chance of passing the genetic predisposition to their children. In addition, there is an increased risk of other tumors later in life. The most common tumors are: malignant moles (melanoma), tumors of bone, muscle and connective tissue (sarcoma), bladder and lung cancer.
Retinoblastoma treatment
Treatment usually consists in a single retinoblastoma (the surgical removal of the eye) from enucleation, especially when the eye is (almost) blind, and involves the non-hereditary form. In the hereditary form one will try to apply a treatment that vision as much as possible intact, for example, with chemotherapy (treatment with cytostatic drugs), and / or coagulation. Sometimes a local irradiation is carried out by placing a radioactive shield behind the eye. External beam radiotherapy is now avoided as much as possible because of the cosmetic disadvantages that this entails (do not grow well in the eye sockets) and increase the risk of cancer in later life in the irradiated area.
Ophthalmologists can also look good in very young children or a treatment strike by looking regularly in the eye (funduscopy). In young children should be done under general anesthesia.
In the Netherlands, the treatment of retinoblastoma concentrated in one hospital, namely the VU Medical Center in Amsterdam because there are ophthalmologists specialize in this disease.