Developed by Robin Reyna
Retinoblastoma
Retinoblastoma is the most common form of intraocular cancer. It affects about 300 children each year in the US. Early detection and treatment of the affected eye is the key to the high survival rate of 90%. Treatment is aimed at trying to save the vision and the eye that is affected. Some children have bilateral disease, meaning both eyes are affected.
Signs and Symptoms
Leukocoria (white pupil)
Strabismus (misaligned eyes)
Neovascular glaucoma
Buphthalmos (enlargement of the eye)
red and painful eye (usually due to glaucoma)
The iris may be a different color in each eye.
Children with both Neovascular glaucoma and buphthalmos are at risk for extraocular spread of Retinoblastoma.
Causes
It is very important to get a thorough family history. Retinoblastoma is the first cancer to be linked with a genetic cause. Deletions or mutation of the q14 band of chromosome 13 has been identified as a genetic cause. Gene mutations can also occur sporadically, without a family history. Retinoblastoma can also be inherited, with a positive family history. If a genetic mutation is found, there is a 45-50% chance of the parents having another child with Retinoblastoma. The most common age that a child is diagnosed is around 18 months.
Diagnostic Tests
examination under anesthesia
specialized blood tests
digital photography
radiographic scans
ultrasound evaluations
biopsy (is the most accurate way to diagnose Retinoblastoma)
CT Scan
MRI
Biopsy is avoided at all costs because of the risk of spreading Retinoblastoma extraocularly.
Treatment
Ophthalmic Oncologist, Pediatric Oncologist, and a Radiation Therapist will all be involved in the treatment of Retinoblastoma. Even though retinoblastoma has been cured by external beam irradiation, investigators have suggested that it may increase in the risk of developing second cancers later in life. Chemotherapy to shrink the retinoblastoma in order to treat them with laser therapy, cryotherapy, and local radiation are currently being evaluated as being safer than external irradiation for Retinoblastoma. There is little long term information on the safety on this type of treatment. When all treatment is exhausted, enucleation is performed on the affected eye to ensure the best possible outcome.
Functional Problems
Although educational programming will involve tactile and auditory techniques, there will often be good spatial orientation because of the early presence of some degree of vision. (Congenitally totally blind children do not have the benefit of this early spatial orientation.) There is some evidence that children with retinoblastoma have better tactile discrimination than other totally blind children, and many of them are above average in intelligence. Learning problems can be a side effect of Chemotherapy. Children can also have fatigue, decreased energy, motor weakness, hearing impairment, and irritability. Orientation and Mobility skills need to be addressed due to the fact that some type of vision loss is to be expected.