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Updated: Jun 30, 2025
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Epidemiology, Diagnosis and Genetics of Retinoblastoma: ICMR Consensus Guidelines
Lata Singh1, Girish Chinnaswamy2, Rachna Meel3
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. lata.aiims@gmail.com.
Insights
Retinoblastoma (RB), a childhood eye cancer, is often caused by RB1 gene mutations. This review offers a consensus on diagnosing and understanding RB genetics in India, crucial for improving outcomes.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Genetics
Background:
- Retinoblastoma (RB) is the most frequent childhood intraocular tumor, primarily driven by mutations in the RB1 tumor suppressor gene.
- Globally, approximately 8000 children are diagnosed annually, with India accounting for about 1500 cases.
- While survival rates exceed 90% in developed nations, understanding RB in the Indian context is vital.
Purpose of the Study:
- To provide a consensus document on the diagnosis and genetics of Retinoblastoma in India.
- To highlight key diagnostic methods and genetic factors relevant to the Indian population.
- To inform clinical practice and genetic counseling for RB in India.
Main Methods:
- Review of existing literature and clinical guidelines pertaining to Retinoblastoma.
- Analysis of diagnostic modalities including fundus examination and ultrasound.
- Examination of histopathologic risk factors and genetic testing approaches.
Main Results:
- Leukocoria and proptosis are common presenting signs in Asian Indian populations.
- Fundus examination and ultrasound are primary diagnostic tools.
- The International Classification of Retinoblastoma is widely used for staging.
Conclusions:
- Prenatal and preimplantation genetic testing can benefit high-risk families.
- Histopathologic factors aid in predicting metastasis risk.
- Aggressive adjuvant treatment is necessary for certain cases of enucleated RB.
Abstract:
Retinoblastoma (RB) is the most common intraocular tumor in childhood. It is mainly caused by mutations in both alleles of the RB1 tumor suppressor gene that is found on chromosome 13 and regulates the cell cycle. Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. The survival rate of RB has improved to more than 90% in the developed world. Leukocoria and proptosis are the most common presenting features of RB in Asian Indian populations. Most cases of RB are diagnosed by fundus examination followed by ultrasound. The International Classification of Retinoblastoma is the most used scheme for the staging and classification of intraocular RB in India. Prenatal testing and preimplantation genetic testing for RB may be beneficial in high-risk families. Histopathologic risk factors such as massive choroidal invasion and post-laminar optic nerve help in predicting the occurrence of metastasis in children with RB, while presence of microscopic residual disease requires aggressive adjuvant treatment in eyes enucleated for group E RB. The review provides a consensus document on diagnosis and genetics of RB in India.
