Clinical features

Presenting features of intraocular retinoblastoma include:

• common
  • leukocoria
    • the most common presentation in the developed world
    • white reflex, or white pupil is seen due to altered pupillary red reflex caused by large tumours or with smaller tumours associated with retinal detachment (1)
    • the absent red reflex may be observed by a clinician or be noted by the parents (e.g. when looking at photographs of their child taken with a flash only one eye is red)
    • usually the disease remains intraocular and curable for 3-6 months after the first sign of leukocoria (1)
  • strabismus
    • the second most common sign
• less common presenting features are:
  • heterochromia - different colour of pupils
  • hyphema - blood in the anterior chamber
  • glaucoma
  • orbital cellulitis/inflammatory presentation (1)

In more advanced disease, the presenting signs and symptoms depend on the extent of extraocular invasion and may include orbital swelling and proptosis (2).

In older children it may present as a posterior uveitis (painful red eye with reduced vision).

Reference:

• (1) Chintagumpala M et al. Retinoblastoma: review of current management. Oncologist. 2007;12(10):1237-46
• (2) Dimaras H et al. Retinoblastoma. Lancet. 2012;379(9824):1436-46