Retinoblastoma history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations[1] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[2]

Symptoms

Retinoblastomas are usually found because a parent or pediatrician notices a child's eye looks unusual.

  • The pupil often appears white or pink when you shine a light in a child's eye.
  • Lazy eye (strabismus): Both eyes do not appear to look in the same direction.
  • Vision problems
  • Eye pain
  • Redness of the white part of the eye
  • A pupil that does not get smaller when exposed to bright light

Other health problems may also cause these symptoms. Only a pediatrician can tell for sure. A person with any of these symptoms should tell the doctor so that the problems can be diagnosed and treated as early as possible. Other conditions with similar symptoms are:

References

  1. Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check |pmid= value (help).
  2. Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.

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