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

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 [1]
  • 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.[1]
  • 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[1]

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[1]

References

  1. 1.0 1.1 1.2 1.3 1.4 Skalet, Alison H.; Gombos, Dan S.; Gallie, Brenda L.; Kim, Jonathan W.; Shields, Carol L.; Marr, Brian P.; Plon, Sharon E.; Chévez-Barrios, Patricia (2018). "Screening Children at Risk for Retinoblastoma". Ophthalmology. 125 (3): 453–458. doi:10.1016/j.ophtha.2017.09.001. ISSN 0161-6420.

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