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Retinoblastoma – Eye Cancer in Children
Retinoblastoma is a malignant tumor of the retina that primarily affects young children. Early detection significantly improves the chances of survival and preserving vision.
Add as Preferred SourceThings worth knowing about "Retinoblastoma"
Retinoblastoma is a malignant tumor of the retina that primarily affects young children. Early detection significantly improves the chances of survival and preserving vision.
What Is Retinoblastoma?
Retinoblastoma is a malignant tumor that originates in the cells of the retina, the light-sensitive tissue at the back of the eye. It is the most common intraocular (within the eye) cancer in children, typically occurring in children under the age of five. The tumor can develop in one eye (unilateral) or both eyes (bilateral). While it can be life-threatening if left untreated, the prognosis is excellent when diagnosed and treated early.
Causes and Risk Factors
Retinoblastoma is caused by mutations in the RB1 gene, a tumor suppressor gene located on chromosome 13. This gene normally regulates cell growth and prevents uncontrolled cell division.
- Hereditary form (approx. 40%): An RB1 mutation is inherited from a parent. Children with this form often develop tumors in both eyes and carry an increased risk of other cancers later in life.
- Sporadic form (approx. 60%): The mutation arises spontaneously in a single retinal cell. This form usually affects only one eye.
In rare cases, a familial clustering may occur without a detectable RB1 mutation.
Symptoms
Retinoblastoma is often painless in its early stages. Key warning signs that parents should watch for include:
- Leukocoria: A white or yellowish glow in the pupil, often noticeable in photographs when one eye reflects red light and the other appears white (sometimes called a “cat's eye reflex”).
- Strabismus: A new onset of crossed or misaligned eyes, which may indicate impaired vision.
- Redness or swelling of the eye
- Changes in iris color
- Visual impairment or vision loss
Parents who notice any of these signs in their child should seek medical attention promptly.
Diagnosis
Diagnosis is typically performed under general anesthesia, as young children cannot cooperate with standard eye examinations. The following methods are used:
- Ophthalmoscopy: Direct examination of the retina by an ophthalmologist
- Ocular ultrasound: To determine the size and location of the tumor
- MRI (Magnetic Resonance Imaging): To assess possible spread of the tumor into the optic nerve or brain
- Genetic testing: To detect RB1 mutations and assess familial risk
Biopsy (tissue sampling) is generally avoided in retinoblastoma, as it may increase the risk of tumor spread.
Treatment
Treatment depends on the size, location, and extent of the tumor, as well as whether one or both eyes are affected. The primary goals are to save the child's life, preserve the eye, and maintain as much vision as possible.
Local Treatments
- Laser photocoagulation: Destruction of small tumors using laser light
- Cryotherapy: Freezing the tumor to destroy it
- Brachytherapy: Placement of a radioactive plaque directly on the eye
Systemic and Local Chemotherapy
- Intravenous chemotherapy: Drugs delivered through the bloodstream to shrink the tumor
- Intra-arterial chemotherapy: Direct injection of chemotherapy agents into the ophthalmic artery via a catheter (Ophthalmic Artery Chemosurgery, OAC)
- Intravitreal chemotherapy: Injection directly into the vitreous cavity of the eye
Surgical Treatment
- Enucleation: Surgical removal of the eyeball when the tumor is too large or the eye cannot be saved. A prosthetic eye is fitted afterward.
Follow-Up Care
Regular follow-up examinations are essential after treatment, as there is a risk of tumor recurrence and the development of new tumors. Children with the hereditary form require lifelong surveillance and should be monitored for secondary tumors outside the eye as well.
Prognosis
In countries with advanced medical care, the survival rate for retinoblastoma exceeds 95%. The earlier the diagnosis, the better the chances of preserving the eye and vision. In low-income countries, the prognosis is considerably worse due to delayed diagnosis.
References
- Lohmann DR, Gallie BL. Retinoblastoma. In: Adam MP, et al. (eds.). GeneReviews. University of Washington, Seattle; updated 2023.
- Kivela T. The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an almost perfectly preventable disease. Acta Ophthalmologica. 2009;87(4):363-367.
- World Health Organization (WHO). Classification of Tumours of the Eye. IARC Press, Lyon, 2022.
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