Facts About Retinoblastoma Syndrome

Retinoblastoma syndrome affects the retinoblastoma gene. This gene is located on chromosome 13, and generally presents as an abnormality in the individual. However, there are also patients who present no symptoms, or have only one symptom.

Retinoblastoma

• Retinoblastoma is a type of cancer that primarily affects your eyes. It is most common in children. The disease also has a high cure rate. Children with the condition often have related problems, such as mental retardation and facial abnormalities.

Abnormalities

• The syndrome presents as a type of abnormality in your body, such as asymmetry in your face, an overly broad nose, a shorter-than-average neck, or larger-than-average ears.

Retardation

• Mental retardation is common with cases of retinoblastoma syndrome. These patients exhibit poor motor functions and a lower-than-average intelligence, or IQ.

Diagnosis

• Doctors diagnose retinoblastoma syndrome in children with at least three of the symptoms. They look for three features of signs of deformities, also known as dysmorphic features.

Prevalence

• According to the "Handbook of Pediatric Retinal Disease," retinoblastoma syndrome is more common in the U.S. than in Europe, with 11 children born with the disease out of 1 million. The book also reports that nearly 95 percent of all cases are diagnosed before the child turns 5.

Treatment

• The treatment of retinoblastoma syndrome traditionally relies on plaque radiotherapy. This has been approved to treat children as young as 16 months old.