Retinoblastoma screening
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Retinoblastoma Microchapters |
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Diagnosis |
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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
According to the United States Preventive Services Task Force, screening for retinoblastoma is not recommended in the general population. However, children with an increased risk of retinoblastoma such as those with a known 13q deletion or family history should be evaluated by an ophthalmologist shortly after birth. Dilated fundus examinations are recommended in siblings and offspring of patients with retinoblastoma.[1]
Screening
- 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.[2]
- 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 retinoblastoma development in the general population has been estimated at 0.007%.
| 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 adapted from Ophthalmology journal [3] |
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Next step in assessing the risk of these children is to estimate the approximate relative risk of retinoblatoma development according to the percentge mentioned in the afromentioned 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%.
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 adapted from Ophthalmology journal[3] |
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References
- ↑ Rothschild, P-R; Lévy, D; Savignoni, A; Lumbroso-Le Rouic, L; Aerts, I; Gauthier-Villars, M; Esteve, M; Bours, D; Desjardins, L; Doz, F; Lévy-Gabriel, C (2011). "Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study". Eye. 25 (12): 1555–1561. doi:10.1038/eye.2011.198. ISSN 0950-222X.
- ↑ 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.
- ↑ 3.0 3.1 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.