Retinoblastoma screening
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Retinoblastoma Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Retinoblastoma screening On the Web |
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American Roentgen Ray Society Images of Retinoblastoma screening |
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Risk calculators and risk factors for Retinoblastoma screening |
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.[1]
- This panel of experts recommended that all children with an elevated risk of retinoblastoma (above the population risk) should be screened via regular fundoscopic examination.
- 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 relativity of patient to the affected relatives.
| Relative of patient | Bilateral involvement (100%) | Unilateral involvement (15%) |
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| 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] |
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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 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 |
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Birth to 8 weeks |
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>8-12 weeks |
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>3 to 12 months |
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>12 to 24 months |
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>24 to 36 months |
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>36 to 48 months |
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>48 to 60 months |
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5 to 7 years |
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| The above table is the recommended management guideline for childhood screening of families with affected individuals and adopted from Ophthalmology journal[1] |
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- 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] |
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References
- ↑ 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.