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Programmed screening for retinoblastoma enhances early diagnosis and improves management outcome for high-risk
Yacoub A Yousef1, Abdelrahman Alkhoms1, Reem AlJabari1
1Departments of Surgery (Ophthalmology), King Hussein Cancer Centre (KHCC) , Amman, Jordan.
Insights
Retinoblastoma (Rb) screening in high-risk children, without genetic testing, significantly improves early diagnosis and eye salvage rates. This approach leads to better visual outcomes and reduces the need for aggressive treatments like chemotherapy.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Genetics
Background:
- Retinoblastoma (Rb) is a pediatric eye cancer.
- Early detection is crucial for successful management and preserving vision.
- Genetic testing is not always available for all high-risk families.
Purpose of the Study:
- To evaluate the effectiveness of a Retinoblastoma (Rb) screening program in high-risk children.
- To assess the impact of screening on disease management and outcomes when genetic testing is absent.
Main Methods:
- Retrospective clinical case series of 76 high-risk children.
- Data collected included calculated risk, diagnosis method, demographics, tumor features, treatment, and outcomes.
- Children were part of an Rb screening program without genetic testing.
Main Results:
- 46 children diagnosed with Rb; 12 detected by screening.
- Screen-diagnosed patients were younger, had earlier tumor stage, higher eye salvage, and better visual outcomes.
- 50% cured without chemotherapy; 55% had visual acuity ≥0.5.
Conclusions:
- Rb screening is effective for early diagnosis in high-risk children, even without genetic testing.
- Screening improves visual outcomes and eye salvage rates.
- Screening reduces treatment burden, including chemotherapy and irradiation.
Purpose:
To study the impact of a Retinoblastoma (Rb) screening program in the absence of genetic testing on the management and outcome of high-risk children.
Methods:
This is a retrospective, clinical case series of 76 children from families involved in a Rb screening program as they had higher than normal risk as calculated by the conventional ways without genetic testing. Data included calculated risk, method of diagnosis, demographics, tumor features, treatment modalities, and management outcome.
Results:
Out of the 76 children screened, 46 children were diagnosed with Rb (12 by screening and 34 had signs of Rb), the other 30 were free of disease. Patients diagnosed by screening were younger (mean; 2.4 months vs 15.8 months for the group with signs of Rb), had significantly earlier tumor stage at diagnosis (p = .0001), higher eye salvage rate (p = .0001), less need for systemic chemotherapy (p = .022), and better visual outcome (p = .0017) than the other group. None of the eyes were group D or E, enucleated or irradiated. Six (50%) patients were cured without chemotherapy, and the visual acuity was 0.5 or better in 55% of eyes. Of interest, 71% of tumors were diagnosed by the age of 6 months, 90% by the age of 1 year, and no new tumor appeared after the age of 2 years.
Conclusion:
Even in the absence of genetic testing, screening for children with high risk for Rb is effective in enhancing early diagnosis, improving visual outcome, and increasing eye salvage rate with limited exposure to treatment burden.
Related Concept Videos
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