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Leukocoria differential

Pediatric Ophthalmology

Key Points

  • •Retinoblastoma is the most important cause of leukocoria - life-threatening if missed. Must be excluded FIRST in every case of white pupillary reflex
  • •Calcification on B-scan/CT is virtually pathognomonic of retinoblastoma (present in 95%); NO calcification in Coats, PFV, toxocariasis
  • •The most useful clinical differentiators: eye size (microphthalmos → PFV; normal/large → retinoblastoma), age (neonate → cataract/PFV; 1–3 yr → Rb; >4 yr → Coats/toxocariasis), and laterality (bilateral → hereditary Rb, cataract, ROP)
  • •Knudson's two-hit hypothesis: Hereditary Rb (40%) = germline RB1 mutation + somatic hit → bilateral, early; non-hereditary (60%) = two somatic hits → unilateral, later
  • •Red reflex screening (Brückner test) at every well-baby visit is the single most important screening tool for leukocoria

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17 more sections are included with the Clinical plan.

  • Definition
  • Epidemiology
  • Aetiology and causes
  • Pathogenesis
  • Classification
  • Risk factors and associations

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