Hereditary Bilateral Retinoblastoma Detected on Screening in a Two-Month-Old Infant With a Strong Family History

Retinoblastoma is the most common primary intraocular malignancy of childhood and may occur sporadically or as a heritable disease related to pathogenic variants in RB1. Early ophthalmic screening of at-risk infants can identify tumors at a stage amenable to globe-sparing therapy. We report a two-month-old asymptomatic female infant with a strong maternal family history of retinoblastoma who was found on screening to have a Group B lesion in the right eye and three Group A lesions in the left eye, according to the International Classification of Retinoblastoma. Following multidisciplinary evaluation, she underwent focal therapy with cryotherapy to the left eye and argon laser photocoagulation to the right eye, together with four 21-day cycles of systemic carboplatin, etoposide, and vincristine. Treatment was well tolerated with minimal reported adverse effects. This case highlights the importance of family history, early screening, and multidisciplinary care in children with suspected heritable retinoblastoma.