Retinoblastoma. Unusual warning and clinical signs

Ophthalmic Paediatr Genet. 1993 Mar;14(1):33-8. doi: 10.3109/13816819309087621.


Three clinical cases have been chosen to illustrate the pitfalls that can be encountered when warning signs other than leukokoria or strabismus indicate possible retinoblastoma. The first case, a four-year-old boy, was admitted to hospital after an accident, presenting uveitis, glaucoma and a subluxated lens. He was suffering from unilateral retinoblastoma, already exteriorized and the cause of death some months later. The second case, and 11-month-old female child was seen on fundus examination to present a yellowish elevated calcified mass which turned out to be tuberous sclerosis. The third patient, a 43-year-old male, father of two children suffering from retinoblastoma, was found on routine examination to be carrying a partially-calcified retinal tumour. Subsequent haemorrhaging rendered enucleation necessary and microscopic examination confirmed the diagnosis of retinoma. The diagnosis of retinoblastoma should always be kept in mind whenever an intraocular mass is revealed or where there are unexplained atypical ocular signs.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Eye Neoplasms / diagnosis
  • Eye Neoplasms / genetics*
  • Female
  • Humans
  • Infant
  • Male
  • Retinoblastoma / diagnosis
  • Retinoblastoma / genetics*