Live class Retinoblastoma by dr. Sai Suguna

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07/16/23

Retinoblastoma
• M/C ocular tumor of childhood
• Commonest age of presentation → 18 months
• 40 % are Hereditary
 Mutation takes place in all the cells
 Also k/a GERMLINE RETINOBLASTOMA
 Bilateral, Multifocal
 Earlier Presentation
• 60 % are Non- Hereditary
 Mutation takes place in Somatic cells
 Unilateral
 Later presentation
30 % are B/L
70% are U/L
Retinoblastoma
Retinoblastoma –Genetics
• RB1 Gene
 1
st tumor suppressor gene discovered
 Located on 13q 14 ( long arm of 13 chromosome on 14 band )
p = short arm = petit
q = long arm
 Follows KNUDSON’S 2 HIT HYPOTHESIS
Retinoblastoma –Clinical Features
• Leucocoria (Amaurotic cat’s eye pupil) M/C → White pupil
• Strabismus (2nd M/C)
• Glaucoma → M/C → Neo vascular Glaucoma (3rd M/C)
Pseudohypopyon (collection of cancer cells)
• Loss of vision
• Heterochromia
• Hyphema
• Uniocular Mydriasis

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