[Differential diagnosis of retinoblastoma: a retrospective study of 486 cases]

J Fr Ophtalmol. 2008 Feb;31(2):165-72. doi: 10.1016/s0181-5512(08)70349-8.
[Article in French]


Objectives: Detail the most frequent problems encountered in the differential diagnosis of retinoblastoma.

Patients: and method: We conducted a retrospective study on the children referred to the Curie Institute for suspicion of retinoblastoma between 2000 and 2006. Diagnosis was made by fundus examination using the indirect ophthalmoscope, ultrasonography, and MRI.

Results: Of the 486 children seen during this period, 408 had unilateral or bilateral retinoblastoma and 78 (16%) had another lesion: Coats disease (20 children, 25%), congenital malformations (23 children, 30%; coloboma, PHPV, microphthalmia, isolated or associated with retinal dysplasia), other tumors (10 children, 13%; astrocytomas and medulloepithelioma), combined hamartomas (six children, 8%), inflammatory diseases (six children, 8%) (Toxocara canis, cat scratch eye disease, or toxoplasmosis), and other diseases (13 children, 16%; corneal opacities, congenital cataract, or retinal detachment).

Discussion: Compared to previous series, this study shows the proportion of erroneous diagnosis has lowered (16%) compared to earlier studies by Balmer (1986; 30%), and Shields (1991; 42%). No cases of retinopathy of prematurity were seen in our series, demonstrating that screening is good or of a lower frequency in France. The frequency of PHPV has dropped. Coats disease remains a frequent and sometimes difficult diagnosis to make, particularly in advanced stages of the disease.

MeSH terms

  • Adult
  • Child
  • Diagnosis, Differential
  • Diagnostic Errors / statistics & numerical data
  • Humans
  • Magnetic Resonance Imaging
  • Ophthalmoscopy
  • Retinal Neoplasms / classification
  • Retinal Neoplasms / diagnosis*
  • Retinal Neoplasms / diagnostic imaging
  • Retinal Neoplasms / pathology
  • Retinoblastoma / classification
  • Retinoblastoma / diagnosis*
  • Retinoblastoma / diagnostic imaging
  • Retinoblastoma / pathology
  • Retrospective Studies
  • Ultrasonography