Retinoblastoma screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

According to the United States Preventive Services Task Force, screening for retinoblastoma is not recommended. There is no widely accepted screening protocol of retinoblastoma for the general population. However, children at increased risk of retinoblastoma based on known 13q deletion or family history should be evaluated by an ophthalmologist shortly after birth. In all offsprings and siblings of patients with retinoblastoma, screening dilated fundus examinations are recommended.

Screening

There is no widely accepted screening protocol of retinoblastoma for the general population. However, children at increased risk of retinoblastoma based on known 13q deletion or family history should be evaluated by an ophthalmologist shortly after birth.

• Screening should then be conducted every 1 to two months during the first two years of life. After that screening should be conducted every three to four months until the child is three to four years of age, and every six months until five to six years of age unless genetic testing of the child reveals that he or she does not have the germline mutation identified in the affected relative, in which case screening examinations are not necessary. Retinoblastoma surveillance examinations are usually performed with the patient under general anesthesia to permit complete detailed examination of the ocular fundus..
• Although it is not clear whether early diagnosis can impact survival, screening with MRI has been recommended as often as every 6 months for 5 years for those suspected of having heritable disease or those with unilateral disease and a positive family history. CT scans are generally avoided for routine screening in these children because of the perceived risk of exposure to ionizing radiation. At the time of diagnosis, patients who are asymptomatic of an intracranial tumor have a better outcome than do patients who are symptomatic.
• The American Academy of Pediatrics recommends red reflex testing infants, neonates, and children before discharge from the neonatal nursery and at all subsequent routine health clinic visits. Abnormal red reflex requires immediate referral to an ophthalmologist. As some children with retinoblastoma present with strabismus, all children with strabismus should be evaluated through a dilated eye exam for retinoblastoma. In all offsprings and siblings of patients with retinoblastoma, screening dilated fundus examinations are recommended.
• Proposed fundus screening guidelines, based on the absolute risk, depending on the clinical context or genetic testing.

Clinical context or genetic testing	Risk to carry germinal RB1 mutation	Overall RB risk for the childa (%)	Fundus screening protocol recommendations
Children known to carry RB1 mutation	Known (100%)	90	First week after birth, then every month up to 18 months of age, then every 3 months up to 4 years of age
Parent bilaterallyb affected	100%	45
Parent unilaterally affected	10%	4	First month after birth, then every 2 months up to 2 years of age, then every 6 months up to 4 years of age
Sibling bilaterallyb affected	100%	4

Abbreviations: RB, retinoblastoma; RB1, retinoblastoma gene.

a-The risk is computed assuming a 90% penetrance of the disease and a 50% risk to inherit the mutated allele from a parent. For unaffected parents of a bilaterally affected child, the risk to carry germinal mutation for each parent is 5%.

b-Or unilateral retinoblastoma with multifocal tumours.