Retinoblastoma: towards an earlier diagnosis

Arch Soc Esp Oftalmol (Engl Ed). 2018 Sep;93(9):439-443. doi: 10.1016/j.oftal.2018.05.003. Epub 2018 Jun 19.
[Article in English, Spanish]

Abstract

Objectives: The number of enucleations and visual sequels due to retinoblastoma is high. The aim of this study was to evaluate the different diagnostic aspects and propose strategies that might improve the clinical management of this condition.

Method: A retrospective study was conducted on 38 patients with retinoblastoma studied genetically (29 unilateral, 9 bilateral). The evaluation included: age of onset, clinical signs, and time since onset, number of enucleations, time to diagnosis, and survival at 5 years.

Results: Leukocoria was the main clinical sign (present in 90% of cases). The mean diagnostic delay was 3.2 months. Among the unilateral cases, the eyes were enucleated in 76%, and 55% in the bilateral forms. Only one death was found among the 25 patients followed-up for at least 5 years.

Conclusions: Retinoblastoma diagnostic and treatment strategies need to be updated. Good coordination between paediatricians and ophthalmologists is essential for this. Its management in reference centres, which have the necessary technology and experience, should contribute to increase the rate of organ preservation.

Keywords: Diagnóstico precoz en cáncer; Early diagnosis in cancer; Enucleación; Enucleation; Estrabismo; Genetic predisposition to the disease; Leucocoria; Leukocoria; Predisposición genética a la enfermedad; Retinoblastoma; Strabismus.

MeSH terms

  • Age of Onset
  • Early Detection of Cancer*
  • Eye Enucleation / statistics & numerical data
  • Eye Neoplasms / diagnosis*
  • Eye Neoplasms / etiology
  • Eye Neoplasms / surgery
  • Eye Neoplasms / therapy
  • Humans
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / surgery
  • Procedures and Techniques Utilization / statistics & numerical data
  • Retinoblastoma / diagnosis*
  • Retinoblastoma / etiology
  • Retinoblastoma / surgery
  • Retinoblastoma / therapy
  • Retrospective Studies
  • Survival Analysis