Retinoblastoma screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2] Simrat Sarai, M.D. [3]

Overview

According to the United States Preventive Services Task Force, screening for retinoblastoma is not recommended in the general population. However, children with an increased risk of retinoblastoma such as those with a known 13q deletion or family history should be evaluated by an ophthalmologist shortly after birth. Dilated fundus examinations are recommended in siblings and offspring of patients with retinoblastoma.

Screening

• Children with a family history of retinoblastoma are at increased risk of developing retinoblastoma and require screening plan for the early diagnosis of the tumor.
• To schedule the screening plan, first, the risk of tumor development must be determined using the infant relationship to the family member with retinoblastoma.
• The table below is an estimate of patients risk for the development of retinoblastoma depending on the relativity of patient to the affected relatives.
• Risk of retinoblastoma development in the general population has been estimated at 0.007%.

Risk of carrying mutated gene in the relatives of a patient with retinoblastoma (Patient)(%)

Relative of patient	Bilateral involvement (100%)	Unilateral involvement (15%)
Offspring (infant)	50	7.5
Parent	5	0.8
Sibling	2.5	0.4
Niece/nephew	1.3	0.2
Aunt/uncle	0.1	0.007
First cousin	0.05	0.007

The above table adapted from Ophthalmology journal

Next step in assessing the risk of these children is to estimate the approximate relative risk of retinoblatoma development according to the percentge mentioned in the afromentioned table.

• Relatives are categorized into three categories:
  • High risk: those with risk percentage > 7.5%
  • Intermediate risk: those with risk percentage between and 1% and 7.5% (including 7.5%).
  • Low risk: those with risk percentage < 1%.
• American Association of Ophthalmic Oncologists and Pathologists (AAOOP) guidline recommends schedueled eye examination for the screening of children at higher risk of retinoblastoma.
• This society recommends screening from birth up to 7 years of age.
• No further examination is required after this age except for those who are known carriers of the RB1 gene mutation.
• For those who carries the RB1 gene mutation, screening should be continued indefinetly after the age of 7 years annuaaly or every 2 years.

The following table is the recommended eye examination schedule for unaffected children of families with retinoblastoma depending on their age and risk percentage of tumor development.

Risk category or Age	High risk	Intermediate risk	Low risk
Birth to 8 weeks	Every 2-4 weeks	Monthly	Monthly
>8-12 weeks	Monthly	Monthly	Monthly
>3 to 12 months	Monthly	Every 2 months	Every 3 months
>12 to 24 months	Every 2 months	Every 3 months	Every 4 months
>24 to 36 months	Every 3 months	Every 3 months	Every 6 months
>36 to 48 months	Every 4 months	Every 4-6 months	Every 6 months
>48 to 60 months	Every 6 months	Every 4-6 months	Annually
5 to 7 years	Every 6 months	Annually	Annually

The above table is the recommended management guideline for childhood screening of families with affected individuals and adapted from Ophthalmology journal

• The scheduel presented above is general guideline for at-risk child when no lesions of concern have been noted. Some children may require more frequent examinations.

The AAOOP guideline also suggests a single dilated fundus examination to evaluate for asymptomatic spontaneously regressed retinoblastoma or retinoma in all first-degree relatives of a patient with retinoblastoma, including older siblings if the RB1 genetic analysis of the relatives is not done.

Genetic testing for child with Retinoblastoma

Not available

Blood:RB1 mutation(+) (germline mutation)

Blood:RB1 mutation(-) Tumor:RB1 mutation(+)

Blood:RB1 mutation(-) tumor:RB1 mutation(-)

Blood:RB1 mutation(-) Tumor:not available

Oohthalmic screnning for all the relatives with greater than population risk

Assessment of relatives for familial retinoblastoma

Ophthalmic screening and genetic analysis not required for 1-degree relatives

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Relatives with RB1 mutation

Relatives w/o RB1 mutation

Ophthlamic screening for future offspring unless negative for parent's mutation

Future offspring of affected child require ophthalmic screening