Retinoblastoma is a rare eye cancer that primarily affects young children, typically diagnosed before the age of five. It originates in the retina, the light-sensitive tissue at the back of the eye, where nerve cells undergo changes leading to tumor formation. While most cases occur in children, it can also appear in adults. Researchers estimate that retinoblastoma occurs in approximately 1 in 15,000 live births.
Classification and symptoms
| Classification Level | Disorder |
| Prevalence | 1/15000 live births in the US |
| Age of Onset | Antenatal, Childhood, Infancy |
| Inheritance | Autosomal dominant |
Approximately 75% of cases are unilateral, affecting one eye, while 25% are bilateral, impacting both eyes. The disease occurs equally among genders and races. Over 90% of children can be cured, although outcomes are poorer if the cancer spreads beyond the eye.
The initial sign is often a white reflection in the pupil, known as “cat’s eye reflex” or leukocoria, noticeable in low light or with flash photography. Other notable symptoms include strabismus (crossed eyes), redness or swelling of the eye, and vision problems. About one-third of retinoblastomas are hereditary, often seen in families with a history of the disease and following an autosomal dominant inheritance pattern. The remaining two-thirds are non-hereditary, usually affecting only one eye and not passed to children. Differentiating between the two forms often requires genetic testing.
Most cases are linked to mutations or deletions in the RB1 gene, which regulates cell growth. These mutations can lead to uncontrolled retinal cell growth and tumor formation. Children with chromosomal deletions may also experience intellectual disabilities and distinctive facial features, such as prominent eyebrows and a broad nasal bridge.
Image: Mutations in Retinoblastoma Protein Structure; Difference between Healthy eye and Retinoblastoma eye; Inheritance in Retinoblastoma
Diagnosis and treatment
Prognosis is generally favorable, especially with early diagnosis and treatment. Visual outcomes depend on the tumor’s size and location, with macular involvement presenting a greater risk for visual impairment. If left untreated, retinoblastoma can metastasize rapidly and may be life-threatening, particularly in low-income countries. Early intervention and ongoing research into new treatments offer hope for better management and outcomes for affected children. Diagnosis typically involves a thorough examination by an ophthalmologist, who may utilize imaging tests to assess whether the cancer has spread. Referrals to specialists, such as oncologists or genetic counselors, may also be necessary for comprehensive care. Treatment for retinoblastoma varies based on tumor characteristics and whether the cancer has metastasized. The primary goals are to preserve vision and prevent further spread. Treatment options include Chemotherapy, Radiation Therapy, Laser Therapy, Cryotherapy, Thermotherapy. In advanced cases where tumors cannot be effectively treated through other methods, enucleation (removal of the affected eyeball) may be necessary. This procedure can prevent the cancer from spreading, with an artificial eye implant placed in the socket that mimics the appearance of a natural eye.
In addition to conventional treatments, researchers are exploring new therapeutic approaches for retinoblastoma. Targeted therapies that focus on specific genetic mutations are being studied, as well as immunotherapies that harness the body’s immune system to fight cancer. These innovative strategies aim to improve outcomes and reduce side effects compared to traditional treatments. One can find out more about available support, here.
Dr. Malini Gupta, PhD.
Sources
- https://www.aao.org/eye-health/diseases/what-is-retinoblastoma
- https://medlineplus.gov/genetics/condition/retinoblastoma/#resources
- https://wechope.org/retinoblastoma/resources/retinoblastoma-communities-social-media/
- https://rarediseases.org/rare-diseases/retinoblastoma/
- Figure – https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/retinoblastoma-like-protein-1
- Figure – https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-01034-6
- Figure – https://medlineplus.gov/genetics/condition/retinoblastoma/
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