Paediatrics: Retinoblastoma: Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Retinoblastoma🎧 A clear, high-yield breakdown of this childhood retinal tumour with genetic links – perfect for exam prep and real-life clinical scenarios.🧠 Key Learning Points📌 Definition• Retinoblastoma is a rare intraocular tumour of early childhood, arising from immature retinal cells due to loss of RB1 gene function. It is the most common eye cancer in children.📌 Causes & Risk Factors• RB1 gene mutation (heritable or sporadic)• 40% of cases are heritable, often bilateral• 60% are non-heritable, usually unilateral• Risk of second malignancies (e.g., osteosarcoma) in heritable form💡 Mnemonic: “RB1 = Retinoblastoma begins with 1 gene”📌 Pathophysiology• RB1 gene = tumour suppressor gene (cell cycle brake)• Tumour forms when both alleles are inactivated• Leads to uncontrolled retinal cell growth• Heritable form: germline + somatic mutation• Sporadic form: two somatic mutations in retinal cells📌 Symptoms• Leukocoria (white pupil reflex)• Strabismus (squint)• Poor vision• Red, painful eye or abnormal eye movements💡 Mnemonic: “Little Squinting Eyes” – Leukocoria, Strabismus, Eye symptoms📌 Differential Diagnosis• Congenital cataract• Toxocariasis• PHPV (persistent hyperplastic primary vitreous)• Coats disease• Retinopathy of prematurity (ROP)• Retinal astrocytoma• Retinal dysplasia• Retinal haematoma📌 Diagnosis• Fundoscopy by ophthalmologist under anaesthetic• Ocular ultrasound + MRI (preferred over CT for children)• Genetic testing for RB1 mutation• Family screening and genetic counselling essential💡 Tip: Leukocoria + no red reflex = immediate referral📌 Management• Multimodal and personalised approach:• Laser photocoagulation, cryotherapy, thermotherapy• Systemic or local chemotherapy (e.g., intra-arterial or periocular)• Radiotherapy (plaque or external beam – avoid in heritable cases)• Enucleation for large or non-salvageable eyes• Follow-up: long-term monitoring + genetic support✅ NICE-aligned: Prioritise early diagnosis + eye-sparing treatments when safe📌 Complications• Vision loss (depending on tumour size and location)• Extraocular spread – rare with early diagnosis• Metastasis to CNS, bones• Second malignancies in hereditary cases (esp. osteosarcoma)• Cosmetic and orbital growth issues after enucleation• Hearing loss (from certain chemo agents)📌 Prognosis• Excellent survival (>95%) in developed countries• Visual outcome varies; many retain partial or full vision in at least one eye• Survivors with RB1 mutation need lifelong monitoring for second cancers• Early diagnosis = key to preserving vision and life📎 More MSRA Resources for Retinoblastoma📝 Revision Notes: https://www.passthemsra.com/topic/retinoblastoma-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/retinoblastoma-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/retinoblastoma-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/retinoblastoma-rapid-quiz/🎓 Full Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/Hashtags#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #Paediatrics #Retinoblastoma