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Retinoblastoma

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High Yield Notes

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Flashcards

Retinoblastoma

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Questions

USMLE® Step 1 style questions USMLE

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A 4-year-old boy is brought to the ophthalmologist after his primary care doctor noted ocular malalignment. He was born at full term without complications. The patient has been growing well along with the 50th percentile for height and weight. Vitals are within normal limits. Physical examination reveals malalignment of the right eye. Examination with an ophthalmoscope reveals a white reflex in the right eye and a red reflex in the left eye. Dilated fundoscopic examination of the right eye is shown below. Which of the following best describes the underlying pathophysiology of this patient’s clinical condition?  


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Summary

Retinoblastoma is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common cancer of the eye in children, and it is almost exclusively found in young children.

It is caused by a genetic mutation in the retinoblastoma (RB1) gene and it can occur in one or both eyes. The most common and obvious sign of retinoblastoma is leukocoria. It can also cause vision problems such as crossed eyes, eye pain, vision loss, and red or irritated eyes. Treatment for retinoblastoma typically includes a combination of therapies such as laser therapy, cryotherapy, chemotherapy, and radiation therapy. Surgery to remove the affected eye (enucleation) may be necessary in some cases.