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Retinoblastoma

Rb gene 13q. Blocks exit from G1 in cell cycle.
90% sporadic (usu unilateral), 10% familial (usu bilateral & multifocal).

Familial disease associated with increased risk of

  1. retinoblastoma
  2. osteosarcoma
  3. bladder carcinoma
  4. breast carcinoma
  5. prostate carcinoma

Presentation

2y child, poor vision, strabismis, whitish pupil, pain and tenderness in eye.

Treatment

  1. enucleation
  2. chaemotherapy
  3. radiotherapy
Tumour may regress spontaneously, but untreated it is more usually fatal.