Opthal: Retinitis Pigmentosa: Free MSRA Podcast

🎧 Deep Dive: Retinitis Pigmentosa (RP) – High-Yield MSRA FocusRP is a group of inherited retinal dystrophies causing gradual photoreceptor degeneration. It typically starts with night blindness and progresses to tunnel vision, potentially leading to severe sight loss.🔍 Definition• Progressive genetic condition causing degeneration of rods (first) then cones• Leads to night blindness → peripheral vision loss → central vision loss🧬 Genetics & Aetiology• Inheritance: Autosomal dominant, recessive, X-linked, or sporadic• Mutations affect rod/cone function• Syndromic associations:– Usher (hearing loss)– Refsum (ataxia, neuropathy, ichthyosis)– Bardet-Biedl, Laurence-Moon, Alström, etc.📌 Risk Factors• Family history• Inherited syndromes (as above)🧠 Pathophysiology• Rod degeneration → nyctalopia (night blindness), peripheral field loss• Cone involvement → ↓ central vision, acuity, colour• Fundus signs: Bone spicules, arteriolar attenuation, optic disc pallor📊 Epidemiology (UK)• ~1 in 4,000• All ethnicities and genders affected• Typically presents in childhood or adolescence👁️ Clinical FeaturesSymptoms:• Night blindness (first)• Tunnel vision• Later: ↓ central vision, colour discriminationSigns:• Bone spicules in periphery• Thin vessels, pale optic disc• Syndromic clues: Hearing loss, ataxia, etc.🔍 Differential Diagnosis• Other dystrophies (cone-rod, Leber’s)• Glaucoma• Drug/toxin-related (e.g. chloroquine)• Infectious (late syphilis), paraneoplastic, metabolic🧪 Investigations• Visual fields: Peripheral loss• Fundoscopy: Pigment deposits, thin vessels• ERG: ↓/absent rod & cone responses• OCT: Retinal thinning• Fundus photos, fluorescein angiography• Genetic testing• Audiology / neurology if syndromic💊 Management• No cure – aim for symptom & complication management• Low vision aids, mobility training• Ophthalmology follow-up• Cataract/glaucoma/macular oedema treatment• Genetic counselling• Support services: visual rehab, psychological care• Driving: Inform DVLA if vision affectedEmerging therapies:• Gene therapy (trials)• Retinal implants, stem cells• Refsum disease: Phytanic acid dietary restriction📉 Prognosis• Variable – depends on genetic type• Many maintain central vision for years• Early support improves outcomes• Progression: night/peripheral → central → legal blindness possible⚠️ Complications• Cataracts (early)• Cystoid macular oedema• Glaucoma• Quality of life issues – reading, driving, independence📚 MSRA Revision Resources📝 Notes: https://www.passthemsra.com/topic/retinitis-pigmentosa-revision-notes/🃏 Flashcards: https://www.passthemsra.com/topic/retinitis-pigmentosa-flashcards/📖 Q&A Notes: https://www.passthemsra.com/topic/retinitis-pigmentosa-accordion-qa-notes/🎯 Rapid Quiz: https://www.passthemsra.com/topic/retinitis-pigmentosa-rapid-quiz/🧪 Quiz: https://www.passthemsra.com/quizzes/retinitis-pigmentosa/🌐 Main sites: https://www.passthemsra.com | https://www.freemsra.com🏁 Key Takeaway• RP = progressive retinal dystrophy, often starting in childhood.• Night blindness → tunnel vision → central loss• No cure yet, but supportive care, complication monitoring, and genetic advice are vital.• Hope lies in gene therapies and bionic implants under development.#MSRA #RetinitisPigmentosa #MSRARevision #Ophthalmology #NightBlindness #TunnelVision #PasstheMSRA #FreeMSRA #MSRAFlashcards #RP #InheritedBlindness #VisionLoss #MSRAQuiz