Retinoblastoma

Retinoblastoma is a rare type of cancer that affects the retina, which is the light-sensitive tissue at the back of the eye. It is the most common primary malignant intraocular tumor in children, and it typically affects young children under the age of 5.

Causes and Risk Factors

Retinoblastoma is caused by a mutation in the RB1 gene, which is a tumor suppressor gene that helps regulate cell growth. This mutation can be inherited from a parent or occur spontaneously. Children with a family history of retinoblastoma are at higher risk of developing the disease.

Symptoms

The symptoms of retinoblastoma may include:

• A white pupillary reflex, also known as leukocoria, which is a white reflection in the pupil
• Strabismus (crossed eyes)
• Redness or swelling of the eye
• Pain or sensitivity to light
• Vision problems or loss of vision
• A lump or mass in the eye

Diagnosis

Retinoblastoma is typically diagnosed through a combination of:

• Physical examination, including an eye exam
• Imaging tests, such as ultrasound, CT scans, or MRI scans
• Biopsy, which involves removing a sample of tissue from the eye for examination under a microscope

Treatment

Treatment for retinoblastoma depends on the size and location of the tumor, as well as the overall health of the child. Treatment options may include:

• Chemotherapy, which uses medications to kill cancer cells
• Radiation therapy, which uses high-energy rays to kill cancer cells
• Cryotherapy, which uses extreme cold to freeze and kill cancer cells
• Laser therapy, which uses a laser to destroy cancer cells
• Enucleation, which involves removing the affected eye
• Plaque brachytherapy, which involves implanting a small radioactive plaque near the tumor

Prognosis

The prognosis for retinoblastoma is generally good if the disease is caught early. The 5-year survival rate for children with retinoblastoma is around 90%. However, if the cancer has spread to other parts of the body, the prognosis is poorer.

Complications

Retinoblastoma can cause a range of complications, including:

• Vision loss or blindness
• Secondary cancers, such as osteosarcoma (bone cancer)
• Hearing loss
• Cognitive impairment
• Emotional and psychological distress

Current Research

Researchers are currently studying new treatments for retinoblastoma, including:

• Gene therapy, which involves using genes to repair or replace the faulty RB1 gene
• Immunotherapy, which uses the body's immune system to fight cancer cells
• Targeted therapies, which use medications that specifically target cancer cells