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An Online Application for Retinoblastoma Surveillance
Nakul Singh1, Meghan J DeBenedictis1, Arun D Singh1
1Cleveland Clinic Cole Eye Institute, Cleveland, Ohio, USA.
Ocular Oncology and Pathology
|October 30, 2020
Summary
Assessing retinoblastoma (RB) inheritance risk is crucial for family screening. An online tool integrates genetic and clinical data to guide RB surveillance recommendations, especially where specialized care is limited.
Area of Science:
- Genetics
- Ophthalmology
- Pediatric Oncology
Background:
- Retinoblastoma (RB) is a heritable childhood cancer posing vision and life threats.
- Accurate risk assessment for inheriting RB is vital for family screening and surveillance.
Purpose of the Study:
- To develop a free online application for RB families.
- The tool integrates phenotypic, genetic, and familial data with surveillance guidelines.
Main Methods:
- Assessed germline RB1 gene mutation risk in relatives based on clinical scenarios.
- Integrated age, phenotype, relationship, and genotype data.
- Derived genetic testing and ophthalmic surveillance recommendations from consensus guidelines.
Main Results:
- Recommendations are stratified by RB1 germline mutation status (detected, undetected, not tested).
- Subcategorization includes tumor phenotype, relationship, age, and family structure.
- An online application is available at https://nakul-singh.shinyapps.io/RB_Screening_rec/.
Conclusions:
- Germline RB1 mutation risk assessment dictates ophthalmic surveillance recommendations.
- The tool is particularly valuable in areas with limited access to specialized care.
