Retinoblastoma: Symptoms & Signs

Retinoblastoma is a cancer or malignant tumor of the eye most commonly seen in children.

The most common sign of retinoblastoma is a white pupil when shining light into the eye (leukocoria). Other associated symptoms and signs can include eye redness, eye swelling, eye pain, different color in each iris, dilated pupil, blurred vision, and vision problems.

Causes of retinoblastoma

Mutations in the RB1 gene cause retinoblastoma. An inherited form of retinoblastoma typically is apparent at birth as multiple tumors in both eyes; an inherited RB1 mutation followed by an acquired RB1 mutation in the other copy of the gene causes this. A non-inherited form of the condition usually causes a single tumor in only one eye and is due to acquired mutations in both copies of the RB1 gene.

Other retinoblastoma symptoms and signs

  • Blurred Vision
  • Dilated Pupil
  • Eye Pain
  • Eye Redness
  • Eye Swelling
  • Lazy Eye
  • Rapid Involuntary Eye Movements
  • Vision Problems
  • White Pupil When Shining Light in the Eye (Leukocoria)

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Medically Reviewed on 9/10/2019
References
Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.
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