• Definition: progressive hereditary dystrophy of the retina or of the photoreceptors and the retinal pigment epithelium
• Epidemiology: early onset (5–30 years)
• Etiology
  • Hereditary or spontaneous mutations (> 45 genes are known as triggers; e.g., mutations in the rhodopsin gene)
• Clinical features
  • Loss of rods:
    • Night blindness
    • Peripheral visual field loss
  • Loss of cones:
    • Decreased central visual acuity (late finding)
• Diagnostics
  • Fundoscopy
    • Retinal vessel attenuation (likely due to altered metabolic demand)
    • Optic disc pallor (optic nerve atrophy and gliosis)
    • Pigment accumulation (characteristic bone-spicule pattern around vessels)