Retinoblastoma
Miguel A. Materin, MD
BACKGROUND
Retinoblastoma is the most common intraocular primary malignancy in children with an estimated incidence of 1/15 000 live births. If untreated, it is a fatal condition.1 Survival is about 95% in developed countries. Incidence of death is still high in Asia and Africa (up to 50%).2 Retinoblastoma has no predilection for gender or race. Most patients are diagnosed before 5 years of age, typically in the first 3 years of life.
The most common sign on presentation is leukocoria; however, patients can also present with strabismus, red eye, glaucoma, orbital cellulitis, pseudohypopyon, and others.
Whenever retinoblastoma is suspected, the patient should be referred immediately to a specialized ophthalmologic cancer treatment center.
CLASSIFICATION
Germline mutation: Usually represents the hereditary form; about 30%-40% of patients with retinoblastoma are affected with this type. They present at an early age, mostly in the first year of life. It can be bilateral (more common) or unilateral. These patients will be at higher risk to develop second, third, and even fourth cancers later in life. There is a 50% of chance patients with germline mutation will pass it to their offspring.2
The most common types of second, nonocular malignant neoplasm include osteosarcoma, soft tissue sarcoma, and cutaneous melanoma.
Somatic mutation: 60%-70% of children with retinoblastoma have this type. It is unilateral and usually presents later compared to patients with germline mutations.
DIAGNOSIS
Detailed family and personal history—specifically focusing on a history of retinoblastoma and other cancers.
All children with a family history of retinoblastoma should be screened soon after birth; screening should be repeated every 4-6 weeks until 1 year of age and then every 2-3 months until 3 years of age.
Complete ophthalmological examination (examination under general anesthesia).
B-scan ultrasonography (Fig. 30.2B).
Irregular mass.
Increased echogenicity compared to vitreous.
Fine calcifications (highly reflective foci with characteristic acoustic shadowing).
Calcifications are key in differentiating retinoblastoma from other mass lesions in young children.
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