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
