Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences

To assess the degree, cause, and consequence of delays from presenting signs to diagnosis of retinoblastoma.

A retrospective chart review was conducted of 64 consecutive patients who presented to the Memorial Sloan-Kettering Cancer Center with newly diagnosed retinoblastoma. Seven patients with a positive family history were excluded.

The median times from presenting signs to diagnosis for patients with unilateral and bilateral disease were 1.5 and 2.25 months (range: 0--46), respectively; for those who presented with leukocoria and strabismus, median times were 1.5 (range: 0--46) and 2.5 months (range: 0--24). Parents noted the first signs in 75% of the cases. Seventy-seven percent delayed seeking treatment, and primary care physicians (PCPs) delayed referral in 30%. Only 3 patients were referred from PCPs solely for physical examination findings. No adverse consequence of delayed diagnosis could be established clearly, but a trend toward eye loss being associated with longer delays in patients with bilateral retinoblastoma was noted.

Leukocoria and strabismus secondary to retinoblastoma are usually first recognized by relatives rather than PCPs. At routine visits, PCPs should inform parents about the importance of reporting eye abnormalities, and children whose parents complain of leukocoria (white, shiny, jello-like eye) should be referred promptly to an ophthalmologist regardless of whether an absent red reflex is appreciated.