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 preservation of the vision and the eye. In 2018, a group of experts in clinical retinoblastoma care and ophthalmic pathology and genetics suggested 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

• In 2018, a group of experts in clinical retinoblastoma care and ophthalmic pathology and genetics suggested 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 fundoscopic examinations.
• To schedule a screening plan, 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 relation of the patient to the affected individual:

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 retinoblastoma development according to the percentage mentioned in the above table.

• Relatives are categorized into three categories:
  • High risk: Those with a risk percentage > 7.5%
  • Intermediate risk: Those with a risk percentage between 1% and 7.5% (including 7.5%)
  • Low risk: Those with a risk percentage < 1%
• American Association of Ophthalmic Oncologists and Pathologists (AAOOP) guideline recommends scheduled eye examination for the screening of children at high risk of developing retinoblastoma. Screening should be initiated at birth and continued till the age of 7 years.
• No further examination is required after the age of 7 years except for those who are known carriers of the RB1 gene mutation.
• For those who are carries of the RB1 gene mutation, screening should be continued indefinitely after the age of 7 years and should be done 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 - 12 months	Monthly	Every 2 months	Every 3 months
> 12 - 24 months	Every 2 months	Every 3 months	Every 4 months
> 24 - 36 months	Every 3 months	Every 3 months	Every 6 months
> 36 - 48 months	Every 4 months	Every 4 - 6 months	Every 6 months
> 48 - 60 months	Every 6 months	Every 4 - 6 months	Annually
5 - 7 years	Every 6 months	Annually	Annually

This table is adopted from Ophthalmology journal

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

• The American Association of Ophthalmic Oncologists and Pathologists (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 Children with Retinoblastoma

Genetic testing for children 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 screening for all the relatives with greater risk than the population

Assessment of relatives for familial retinoblastoma

Ophthalmic screening and genetic analysis not required for first degree relatives

No need for genetic analysis of first degree relatives

Relatives with RB1 mutation

Relatives without 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