What are the findings on physical examination associated with retinoblastoma (intraocular tumor)?

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From the Guidelines

The most significant finding on physical exam associated with retinoblastoma is leukocoria, also known as "white pupillary reflex" or "cat's eye reflex," which appears as a white or yellow-white reflection from the pupil instead of the normal red reflex when light is shined into the eye. This is because retinoblastoma is a malignant tumor arising from immature retinal cells, typically affecting children under 5 years of age. According to the American Academy of Pediatrics policy statement on eye examinations 1, the recommended test for ocular media clarity, including tumors, is the red reflex test. The referral criteria for this test include a white pupil, dark spots, or an absent reflex, which can indicate possible retinoblastoma.

Some key points to consider when performing a physical exam for retinoblastoma include:

  • Using a direct ophthalmoscope in a darkened room to view the eyes separately at 12 to 18 inches
  • Looking for a white reflex, which can indicate possible retinoblastoma
  • Being aware of other potential physical exam findings, such as strabismus, decreased visual acuity, iris heterochromia, hyphema, glaucoma with buphthalmos, orbital cellulitis-like presentation with proptosis, and signs of inflammation
  • Recognizing that early detection through routine red reflex examination during well-child visits is crucial, as prompt diagnosis and treatment significantly improve prognosis and may preserve vision and save lives 1.

It is essential to prioritize the red reflex test as part of routine well-child visits, as it can help identify retinoblastoma at an early stage, when treatment is more effective. By being aware of the signs and symptoms of retinoblastoma and performing regular red reflex tests, healthcare providers can play a critical role in improving outcomes for children with this condition.

From the Research

Findings on Physical Exam Associated with Retinoblastoma

  • The commonest sign of retinoblastoma is the white eye reflex, also known as leukocoria, as stated in 2 and 3.
  • Strabismus is another significant finding, with studies indicating it can be a presenting sign in retinoblastoma, as reported in 4, 3, and 5.
  • Altered discoloration of the pupil is also a symptom that can lead to medical attention, as mentioned in 4.
  • Inflammation can be a presenting sign, although it is associated with worse ocular survival, as found in 3.
  • Foveal involvement is common in patients who present with strabismus, which may influence decision-making regarding globe salvage, as noted in 3.
  • Exotropia and esotropia are types of strabismus that can occur in retinoblastoma patients, with exotropia being more common than esotropia, as reported in 3 and 5.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Retinoblastoma.

Indian journal of pediatrics, 2017

Research

Strabismus as a Presenting Sign in Retinoblastoma.

Journal of pediatric ophthalmology and strabismus, 2021

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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