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

Early diagnosis of retinoblastoma is necessary to obtain the best outcomes for vision and eye salvage. In 2018, a group of experts in clinical retinoblastoma care and ophthalmic pathology and genetics suggest a risk-stratified schedule for ophthalmic screening examinations. Estimated risk of retinoblastoma development is calculated according to the relativity of individuals to the family member with retinoblastoma.

Screening

Early diagnosis of retinoblastoma is necessary to obtain the best outcomes for vision and eye salvage. In 2018, a group of experts in clinical retinoblastoma care and ophthalmic pathology and genetics suggest a risk-stratified schedule for ophthalmic screening examinations. This panel of experts recommended that all children with an elevated risk of retinoblastoma (above the population risk) should be screened via regular fundus examination by an ophthalmologist with experience in retinoblastoma.

• The estimated risk of retinoblastoma development in normal population is calculated 0.007%.
• 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 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 adopted 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 percentage mentioned in the aforementioned 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) guideline recommends scheduled 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 indefinitely after the age of 7 years annually 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 adopted from Ophthalmology journal

• The schedule 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

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

Ophthalmic 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

No need for genetic analysis of 1-degree relatives

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

Ophthalmic screening for children as high risk

Ophthalmic screening not required

The above table is the recommended genetic analysis guidline for families with affected individuals and adopted from Ophthalmology journal