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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.[1] 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.

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 [1]

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. [1]
  • 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[1]
  • 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[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.
  2. Dhar, Shweta U. (2011). "Outcomes of Integrating Genetics in Management of Patients With Retinoblastoma". Archives of Ophthalmology. 129 (11): 1428. doi:10.1001/archophthalmol.2011.292. ISSN 0003-9950.