Retinoblastoma: Pathogenesis and clinical findings
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Retinoblastoma: Pathogenesis and clinical findings

 • Sporadic mutation -> One allele of RB1 tumor suppressor gene mutated in one cell  -> Mutagenic event i.e. 'second hit' -> Malignant transformation of the cell -> Unilateral Somatic Retinoblastoma

 • Inherited mutation -> One allele of RB1 tumor suppressor gene mutated in all cells -> Mutagenic event i.e. 'second hit' -> Malignant transformation of the cell -> Bilateral Germline Retinoblastoma

Signs / Symptoms / Complications:

 • Leukocoria (absent or partial retinal red reflex)

 • Orbital inflammation

 • Spheroid mass in vitreous

 • Metastatic spread

 • Sub-retinal fluid accumulation

  - Decreased visual acuity

   - Retinal detachment

 • Red Eye

 • Pseudo-hypopyon

 • Secondary glaucoma

 • Strabismus



#Retinoblastoma #pathophysiology #ophthalmology #diagnosis #signs #symptoms 
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The Calgary Guide to Understanding Disease
@TheCalgaryGuide
Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/
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