Diagnosis of retinoblastoma: how good are referring physicians?

To evaluate accuracy of the referring diagnoses of retinoblastoma to a tertiary cancer referral center.

Retrospective chart review of 352 retinoblastoma-related patients seen by the ophthalmic oncology service during a 4-year period from January 1, 2004 to October 21, 2008. Of these, 111 were referred with a suspicion of new retinoblastoma and were included in the study. Fundus photographs, gender, family history of retinoblastoma, initial symptoms, age, initial and referring physicians' specialty (eg, pediatrician, general ophthalmologist, retinal specialist) and their suspected diagnoses were recorded. The main outcome measure was accuracy of diagnosis given by referring providers.

Of 111 patients, 62% had retinoblastoma and 38% did not. Persistent fetal vasculature (PFV) and Coats' Disease were the most common simulating lesions accounting for 31% and 29% of the simulating lesions respectively. Other simulating lesions included infrequent cases of rare conditions such as primary ocular teratoma, a retinal pigment epithelial tumor, and astrocytic hamartoma.

Retinoblastoma continues to present a diagnostic dilemma. There has been limited improvement in the rate of correct diagnosis in the United States in the last 15 years. There has however been a change in the composition of misdiagnosed lesions with rare conditions accounting for more than 1/3 of cases. Attention to age, family history, laterality and presenting signs such as globe size can aid diagnosis of retinoblastoma.