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Retinitis pigmentosa
Retina & Vitreous
Key Points
- •RP is the most common inherited retinal dystrophy (~1 in 3,000–4,000); over 100 genes identified; AR is most common, X-linked is most severe
- •Classic triad: bone spicule pigment + arteriolar attenuation + waxy disc pallor; ERG (extinguished scotopic) is the gold standard for diagnosis
- •Usher syndrome (RP + hearing loss) is the most common syndromic form - always perform audiometry. Bardet-Biedl includes obesity, polydactyly, renal anomalies
- •Luxturna (voretigene neparvovec) is the first FDA-approved gene therapy for inherited retinal disease - for biallelic RPE65 mutations; genetic testing is essential
- •CMO (treatable with dorzolamide/acetazolamide) and PSC cataract are the main treatable complications that should be actively managed
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Keep reading Retinitis pigmentosa
17 more sections are included with the Clinical plan.
- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations