Retinoblastoma history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[3] Simrat Sarai, M.D. [4]

The hallmark of retinoblastoma is leukocoria, which is an abnormal appearance of the retina as viewed through the pupil, also known as amaurotic cat’s eye reflex. Common symptoms of retinoblastoma include strabismus and proptosis. The clinical presentation depends on the stage of the disease.

• History of a patient with retinoblastoma may include the:^[1]
  • Perinatal history of:
    • Pregnancy complications
    • Early birth
    • Low birth weight
    • Use of oxygen
  • Personal history of:
    • Exposure to pets
    • Recent trauma
    • Systemic illness
  • Family history of:
    • Genetic disease
    • Blindness
    • Eye surgery in the setting of a tumor
    • Visual problems in the childhood (amblyopia)

• Clinical features of retinoblatoma are approximately the same in variable studies and the common findings are as follow:^[2][3][4]
  • Abnormal appearance of the pupil (leukocoria, also known as amaurotic cat’s eye reflex)
  • Deviation of the eye to one side (strabismus) (especially when the macula is involved)
  • Decreased vision
  • Painful red eye
  • Loss of vision
• Presenting symptoms in adult onset of the tumor are insidious and can include:^[5]
  • Vision loss
  • Perception of shadows in the visual field
  • Pain and redness

• Advanced and/or metastatic form of the tumor also presents with constitutional symptoms, such as:
  • Weight loss
  • Vomiting
  • Headache
• Patients with retinoblastoma may also present with delay in developmental milestones and intellectual disability which may be perceived by their caregivers.^[7]
  • Intellectual disability may be the result of an accompanying disease or with no clear reason.
  • Chromosome 13q14 deletion may cause retinoblastoma and intellectual disability.
  • Retinoblastoma has been also reported in a patient with Fragile x syndrome.

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