Retinoblastoma screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1],Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Overview

Identifying the RB1 gene mutation that led to a child's retinoblastoma can be important in the clinical care of the affected individual and in the care of (future) siblings and offspring.It may run in the family.

Screening

Screening for retinoblastoma should be part of a "well baby" screening for newborns during the first three months of life, to include:

  • The red reflex: checking for a normal reddish-orange reflection from the eye's retina with an ophthalmoscope or retinoscope from approximately 30 cm / 1 foot, usually done in a dimly lit or dark room.
  • The corneal light reflex/Hirschberg test: checking for symmetrical reflection of beam of light in the same spot on each eye when a light is shined into each cornea, to help determine whether the eyes are crossed.
  • Eye examination: checking for any structural abnormalities.
  • Bryan Shaw helped develop a smart-phone app that can detect leukocoria in photos.

References

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