Retinoblastoma

Retinoblastoma is a rare but serious type of eye cancer that develops in the retina, the light-sensitive tissue at the back of the eye. It most commonly affects infants and young children, usually before the age of five. The disease occurs when retinal cells grow uncontrollably, forming a tumor that can impair vision and, if untreated, spread beyond the eye. With early diagnosis and appropriate treatment, survival rates are high and vision can often be preserved.

Symptoms of Retinoblastoma

Symptoms may vary depending on the size and location of the tumor. Some signs are noticeable during routine observation or pediatric check-ups.

• A white or pale reflection in the pupil, often seen in photos taken with flash

• Eyes that appear crossed or misaligned

• Redness or swelling of the eye without signs of infection

• Poor vision or difficulty focusing

• Enlarged pupil or different-colored pupils

• Eye pain in advanced cases

Causes of Retinoblastoma

Retinoblastoma is caused by genetic changes that affect how retinal cells grow and divide. These changes involve the RB1 gene, which normally helps control cell growth.

There are two main forms:

• Hereditary retinoblastoma, where a child inherits a faulty RB1 gene and may develop tumors in one or both eyes

• Non-hereditary retinoblastoma, where genetic changes occur only in retinal cells, usually affecting one eye

Risk Factors for Retinoblastoma

Certain factors increase the likelihood of developing retinoblastoma.

• Family history of retinoblastoma

• Inherited mutations in the RB1 gene

• Very young age, particularly under five years

• Presence of genetic syndromes associated with RB1 mutations

Complications of Retinoblastoma

If not diagnosed and treated early, retinoblastoma can lead to serious complications affecting both eye health and overall well-being.

• Partial or complete vision loss

• Spread of cancer to the brain, bones, or other organs

• Increased risk of developing other cancers later in life, especially in hereditary cases

• Eye damage or loss of the eye due to advanced disease or treatment

Prevention of Retinoblastoma

There is no guaranteed way to prevent retinoblastoma, but early detection and genetic awareness can reduce complications.

• Genetic counseling and testing for families with a history of retinoblastoma

• Regular eye examinations for infants and young children at risk

• Early screening of siblings when hereditary retinoblastoma is present

• Prompt medical evaluation if abnormal eye appearance or vision issues are noticed

Early recognition and timely treatment are key to improving outcomes and preserving vision in children affected by retinoblastoma.