Retinoblastoma is a rare form of
cancer that predominantly affects young children, typically under the age of five. It originates in the retina, the light-sensitive tissue at the back of the eye. The disease can be hereditary or non-hereditary, with the hereditary form being more likely to affect both eyes.
The primary cause of retinoblastoma is mutations in the
RB1 gene. This gene is responsible for producing a protein that helps regulate cell growth. When the RB1 gene is mutated, cells can grow uncontrollably, leading to cancer. In hereditary cases, a defective RB1 gene is passed from parent to child, while in non-hereditary cases, the mutation occurs spontaneously.
Symptoms often vary, but common signs include a white color in the pupil when light is shone in the eye, known as
leukocoria. Other symptoms may include
strabismus (crossed eyes), persistent eye redness or irritation, and poor vision. Early detection is crucial for effective treatment.
Diagnosis usually begins with a thorough eye examination by an ophthalmologist. Additional tests like
ultrasound,
MRI, and
CT scans are often performed to confirm the diagnosis and determine the extent of the disease. Genetic testing can also be conducted to identify mutations in the RB1 gene.
The prognosis for retinoblastoma has significantly improved with early detection and advanced treatment options. The survival rate is over 95% for children diagnosed early and treated appropriately. However, long-term monitoring is essential as survivors have an increased risk of developing other cancers later in life, particularly if they have the hereditary form of the disease.
While there is no guaranteed way to prevent retinoblastoma, genetic counseling can help families understand their risks. Regular eye examinations for children with a family history of the disease are crucial for early detection. Prenatal testing can also identify mutations in the RB1 gene, allowing for early intervention.
Ongoing research is focused on understanding the molecular mechanisms behind retinoblastoma and developing more effective treatments. Studies are exploring the use of
gene therapy to correct RB1 mutations and novel drug combinations to improve outcomes. Clinical trials are continually testing new therapies to reduce side effects and improve the quality of life for patients.
