Retinoblastoma is a type of paediatric cancer that affects the retina of the eye. Your retina collaborates with your brain to assist you in seeing. The retina is located behind the pupil of the eye. It is made up of layers of cells that detect light and transmit information to your brain.
Retinoblastoma almost always occurs in children under the age of five.Retinoblastoma (RB) is the most common intraocular malignancy in children Cryotherapy, chemotherapy, radiation, and surgery are all treatments for retinoblastoma. The prognosis is determined by several factors, including the size and location of the tumour, as well as whether the cancer has spread. Most children with retinoblastoma live cancer-free after treatment if the tumour has not spread beyond the eye.
Worldwide, about 8000 children are newly diagnosed with retinoblastoma every year (1in16,000 -18,000 live births). As per the Population Based Cancer Registries of India, the incidence rate in 0-4years age group is higher, ranging from 5.1 to 21.7 per million among males, and 3.4 to 18.9 per million among females. (2)
The condition usually affects only one eye. About a quarter of the time, both eyes are affected.
Retinoblastoma is caused by both germline and somatic mutation in RB1 gene, a tumor suppressor gene located in the long arm of chromosome 13. The mutation causes uncontrollable growth of cells in the eye, eventually forming a tumour. A child inherits the RB1 mutation from a parent roughly 40% of the time (heritable retinoblastoma).. In those cases, healthcare providers are unsure what caused the genetic mutation (nonheritable retinoblastoma).
Almost80% of children with heritable retinoblastoma will develop tumours in both eyes (bilateral), while 15% will develop a tumour in only one eye and 5% will develop trilateral retinoblastoma (bilateral retinoblastoma and a brain tumour).Nonheritable retinoblastoma causes tumours in only one eye in children (unilateral).
The first sign of retinoblastoma is usually a change in the appearance of the eye. The symptoms can affect either one or both eyes. Symptoms of retinoblastoma include:
A specialized eye examination is usually used to diagnose retinoblastoma. Your child will be sedated during the examination. Your child is given medicine through a vein and falls asleep during the exam. The retina is examined by the eye doctor using instruments and lights.
Your child's doctor may also conduct imaging studies or other tests to determine whether the cancer has spread to other parts of the body. Among these tests are:
Staging is a method used by Doctor to find out the extent of the disease and to classify retinoblastoma. They look at where the tumour is and whether it has spread to other parts of the body, such as the brain, bones, or organs. The majority of retinoblastoma tumours are detected before they spread throughout the body.
The team of providers who care for your child uses staging information to determine the best treatment plan for them. There are different staging systems. Commonly used system for intra ocular staging is Intraocular Classification of Retinoblastoma Grouping (ICRB). This staging system has divided the RB into 5 groups (A to E) depending on the extent of tumor inside the eye.
Treatments vary according to the stage of the disease.
Your child's medical team will consider whether cancer is limited to the eye (intraocular retinoblastoma). If it has spread to other parts of the body, treatments may differ (extraocular retinoblastoma). Treatments for retinoblastoma include:
Nonheritable retinoblastoma cannot be prevented.
If you or your partner had retinoblastoma as a child, your children have a 50% chance of inheriting the disease. If you have a family history of retinoblastoma or the RB1 gene mutation, you should think about genetic testing before having children. Children with a retinoblastoma family history should have regular eye exams beginning at birth. It is critical to detect and diagnose retinoblastoma as soon as possible. An early diagnosis can improve the prognosis significantly. Early detection of cancer may prevent vision loss.