The Cribsiders S7 Ep153: Say Cheese! Eye Spy Retinoblastoma
Sep 24, 2025
Dr. Basil Williams, a combined ocular oncologist and vitreoretinal disease specialist at Bascom Palmer Eye Institute, shares invaluable insights on Retinoblastoma. He discusses the role of smartphones in early detection through white reflex, emphasizing that leukocoria should always be treated as Retinoblastoma until proven otherwise. The conversation also highlights recent advancements in genetic testing and AI diagnostics, as well as the importance of regular screening. Dr. Williams stresses the need for urgent intervention and effective communication with families to ensure better outcomes.
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Hidden Family History Revealing Germline Mutation
- Dr. Williams recounts a case where a paternal grandmother had an eye removed and later a child presented with bilateral disease.
- Genetic testing revealed the father carried the RB1 mutation despite no eye findings.
Use Simple Screening, Refer For Diagnosis
- Do not attempt dilated exams or advanced imaging in primary care; use a good light source and expedite referral.
- Let ophthalmology handle diagnostic imaging and labs after confirmation.
Ultrasound And Clinical Diagnosis
- Ocular ultrasound reliably shows intraocular calcification, a near‑definitive sign of retinoblastoma.
- Diagnosis is largely clinical to avoid biopsy-related extraocular spread.