Genetic Profile of Retinoblastoma Patients from a Referral Hospital in Gujarat

Background & objectives: Retinoblastoma is the most common intraocular malignancy of infant and childhood. It is the first disease for which a genetic etiology of cancer has been described and the first suppressor gene identified. The chromosomal abnormality found in retinoblastoma cases is deletion of 13q14. The aim of this study was to carry out karyotypic study in Retinoblastoma cases and identifying nature of chromosomal abnormalities in these patients to determine recurrence risks to assist genetic counseling. Materials and Methods: Karyotypic study was perform by Trypsin- Giemsa Banding for 17 unilateral and 8 bilateral retinoblastoma patients (total 25) for that their blood samples were taken. A prior written consent was taken from the parents of these patients. Results: Out of 25 cases of Retinoblastoma, one female (4%) had 13q14 deletion and 24 (96%) showed normal chromosomal constitution and not a single case of translocation and mosaicism were found. Conclusion: Karyotyping is the simplest and affordable genetic test for most of the retinoblastoma families especially in a developing country like India. Genetic testing is crucial for accurate risk prediction for retinoblastoma in close relatives of probands and provides a basis for genetic counseling.