Article Text

PDF
Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands
  1. S M Imhof1,
  2. A C Moll1,
  3. A Y N Schouten-van Meeteren2
  1. 1Department of Ophthalmology, VU University Medical Centre, Amsterdam, Netherlands
  2. 2Department of Pediatric Oncology, Academic Medical Centre, Amsterdam, Netherlands
  1. Correspondence to: Saskia M Imhof MD, PhD, FEBOphth, VU University Medical Centre, Department of Ophthalmology, De Boelelaan 1117, 1081 HV Amsterdam, Netherlands; s.imhof{at}vumc.nl

Abstract

Background: In the Netherlands a comprehensive programme for screening just after birth for familial retinoblastoma is taking place. In this report the stage of the disease at the time of detection, by way of screening, and the long term visual outcome in these patients was evaluated.

Methods: A nationwide, retrospective study. From January 1992–July 2004, patients at risk for familial retinoblastoma were screened 1–2 weeks after birth, and investigated for laterality, Reese-Ellsworth classification/International Classification of Retinoblastoma, macular involvement, age of primary retinoblastoma, initial therapy, and visual outcome.

Results: 17 patients were diagnosed with familial retinoblastoma. 88.3% developed bilateral, 11.7% unilateral retinoblastoma. Of the 34 eyes, 56% were R-E group I, 16% were group II A-B, 16% were group III A-B, 9% were group IV, 3% were group V. Using the International Classification of Retinoblastoma, 72% were group A, 19% were group B, 6% were group C, 3% were group E. The visual outcome revealed 73.5% of eyes with 20/20–20/40, 26.5% eyes with ⩽20/100–no light perception; 5.9% of eyes were enucleated, all other eyes were treated with local or conservative treatment methods. Of all eyes, 59% had extramacular retinoblastoma, 98% of patients had at least one eye with extramacular retinoblastoma.

Conclusion: Most familial retinoblastoma patients present as a R-E group I or group A when screened within 2 weeks after birth. Nearly 90% of patients had a long term visual acuity of 20/20–20/40. Despite the common occurrence of macula involvement, bilateral macula involvement was infrequent, and since most eyes were salvaged, good vision was obtained in the majority of patients.

  • CRED, chemoreduction
  • EBRT, external beam radiotherapy
  • FC, finger counting
  • LP, light perception
  • NP, no perception
  • RB, retinoblastoma
  • RE, Reese-Ellsworth
  • TCT, thermochemotherapy
  • TT, thermotherapy (diode laser)
  • retinoblastoma
  • familial
  • stage of presentation
  • visual outcome
  • CRED, chemoreduction
  • EBRT, external beam radiotherapy
  • FC, finger counting
  • LP, light perception
  • NP, no perception
  • RB, retinoblastoma
  • RE, Reese-Ellsworth
  • TCT, thermochemotherapy
  • TT, thermotherapy (diode laser)
  • retinoblastoma
  • familial
  • stage of presentation
  • visual outcome

Statistics from Altmetric.com

Footnotes

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.