Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study

Abstract

Aims: To assess if systematic fundus screening according to an 'intensive' schedule alters ocular outcome and to propose fundus screening schedule guidelines for children related to a retinoblastoma patient.

Methods: For children with a positive family history of retinoblastoma, we perform fundus exams shortly after birth under general anaesthesia and then at regular intervals according to schedules based on the risk. Familial retinoblastoma cases seen at our institution from January 1995 to December 2004 were retrospectively classified as 'screened' or 'non-screened' (NS) and, among the 'screened' patients, as 'intensively screened' (IS) if screening matched our recommendations or 'non-intensively screened' (S). Groups were compared by Fisher exact test for categorical variables and Kruskal-Wallis test for continuous variables.

Results: Among the 547 retinoblastoma patients managed at our institution during this period, 59 were familial cases. In all, 20 were in the NS group, 23 in the S group, and 16 in the IS group. The number of children enucleated was, respectively, 13, 2, and 0 (P<10(-4)); external beam radiation (EBRT) was required for, respectively, 6, 0, and 2 children (P<0.009). Chemotherapy burden and visual acuity were not significantly different between groups.

Conclusion: An 'intensive' fundus screening schedule decreased the need for enucleation and EBRT. Therefore, despite the heavy burden of the screening schedule, we recommend physicians and health-care professionals to better inform and refer children with a family history of retinoblastoma for genetic counselling and proper fundus screening in specialized centres.

Figure 1

Groups of screening flow chart. Three screening groups were retrospectively defined according to the type of screening performed in familial cases of retinoblastoma seen at Curie Institute during the study period.

Figure 2

Disease stage at presentation according to the RE and the ICR (number of children). The worst eye of each child was considered for classification. Patients in the I, II, or III group of the RE classification (or A, B, and C group of the ICR) are usually eligible for a conservative management. Children in the IV and V group of the RE (or D, E of the ICR) require enucleation or EBRT therapy.^{, a}Data available for 57 patients.

Figure 3

Management modalities according to the type of screening (number of children who received the treatment at least once). Screening significantly reduced the need for enucleation (P<0.0001) and EBRT (P<0.009) without significantly altering chemotherapy requirements.