.ATIONAL2ETINOBLASTOMA3TRATEGY #ANADIAN'UIDELINESFOR#ARE INTRODUCTION a more standardized approach, delivering a broad spec- trum of specialist treatment according to an agreed-upon etinoblastoma (Rb) is a rare and unique cancer that guideline document that is evidence-based where possible. R forms in the eyes of children, often before they are Furthermore, this approach will facilitate data collection born. It is a complicated disease triggered by genetic muta- and the application of scientific methods to the disease and tions in one or more cells of the retina. The incidence of its treatment. Rb is 1 in 15,000 live births,1 with about 23 children being diagnosed in Canada each year. Untreated, Rb is fatal. METHODOLOGY With timely screening, diagnosis, referral, treatment, and follow-up delivered in a systematic way by a multidisciplin- Through consultation and personal communications be- ary team, 98%2-4 of children with Rb are cured, many with tween key stakeholders from across Canada, the National useful vision.5 Canadian scientists are world leaders in the Retinoblastoma Strategy (NRbS) emerged as a novel ap- development of treatment and genetic analysis, yet many proach to address inequalities evident for children with Rb Canadian Rb families do not receive optimal care, due to and their families across the wide geography and jurisdic- inadequate knowledge of Rb in primary care settings, and tions of Canada. The core of the Strategy was identified wide variations in access to care. Early diagnosis is key to a to be comprehensive patient-centred and family-centred successful outcome. guidelines, developed using the best available evidence and Access to care is one of the most difficult issues that Rb expert opinion for screening, diagnosis, treatment, and families must overcome. Specialists in Rb are available in follow-up of Rb, and extending to broader needs, includ- only a few centres of excellence, so a patient’s province of ing geographical access to care, psychosocial resources for residence significantly affects access to high-quality Rb care. families, and health services with specific Rb expertise. As Variation in quality of care and access to care exposes Rb a first step, the Canadian Retinoblastoma Society (CRBS) families to unnecessary risks, currently most evident as de- undertook overall responsibility for the development of the lay in diagnosis and unequal access to genetic testing. Most Canadian Guidelines for Retinoblastoma Care. Future public families are required to travel, some great distances, to re- and professional education will be based on these guide- ceive appropriate care. However, not all provinces cover the lines, and long-term feedback on their effectiveness will be costs associated with travel necessary to access care unavail- assessed through measurement of outcomes for Canadian able in the home province. families. These challenges prompted the Canadian Retinoblas- toma Society (CRBS) (a registered charity dedicated to ad- Guideline Development dressing the needs of families who are affected by Rb), Rb Where possible, the content of this document was de- families, and Rb experts from across the country to create veloped in accordance with the Canadian Medical Associa- the National Retinoblastoma Strategy (NRbS). The NRbS tion Handbook on Clinical Practice Guidelines6 and criteria began as a discussion around the divergence in levels of care specified in the 6 domains of the Appraisal of Guidelines available across Canada. These guidelines form an integral Research and Evaluation (AGREE) Instrument.7 These do- part of that Strategy, as we meet our goal of ensuring every mains cover the following dimensions of guidelines: scope Canadian family impacted by the disease receives high- and purpose, stakeholder involvement, rigour of develop- quality Rb care. These guidelines were created as a result of ment, clarity and presentation, applicability, and editorial a unique partnership between experts in the fields of oph- independence. thalmology, oncology, genetics, social work, nursing, and The objective of this document is to guide Canadian other specialties from across Canada, as well as Rb surviv- healthcare professionals and assist them to maximize early ors and their families. Together this group identified short- detection of Rb, improve access for families to a Canadian comings in the Canadian healthcare system that result in standard of care, and eventually minimize risk and optimize less-than-optimal care being delivered to Rb families, and patient outcomes. To meet this objective, the Expert Com- highlighted a national solution. mittee which drafted this document included healthcare By agreeing upon and adopting a set of national guide- professionals, researchers and paramedical staff with exper- lines, it is hoped that all affected families will benefit from tise in the areas of screening, diagnosis, treatment, genetics, CAN J OPHTHALMOL—VOL. 44, SUPPL. 2, 2009 3 NRbS Canadian Guidelines for Care psychosocial support, and follow-up, as well as Rb survivors Guideline Updates and family members (see “Committee List”). Each author A process to update the guidelines will commence within group identified the key clinical questions in their area, and 3 years of publication of this version and will establish a undertook a comprehensive literature search to establish 5-year cycle of guideline reassessment, in terms of new the evidence base for their topic and develop recommenda- literature and studies, and renewed consensus. Updates may tions. In large part because it is a rare disease, Rb children be published in the event of significant changes in evidence have not benefited from the kinds of clinical trial research supporting the recommendations. that has profoundly improved outcomes of pediatric cancer in general.8,9 No randomized clinical trials have been com- Notes to Readers pleted to assess clinical care of Rb. These guidelines are based on the best available evidence Health benefits, risks and side effects of interventions and expert opinion, and are intended to optimize patterns were considered in formulating the recommendations. Ref- of clinical practice. They are not to be prescriptive or replace erences used to support recommendations were evaluated clinical judgement,6 nor restrict innovation. Healthcare according to criteria adapted from other published guide- professionals must always consider the needs, preferences, lines (Table 1).10,11 However, as discussed above, in the ab- values, financial and personal circumstances of individual sence of high-quality evidence in the field of Rb research, patients and work within the realities of their healthcare many of the recommendations were, by necessity, based on setting. Inequities in staffing, financial, equipment, and consensus. Throughout the development of these guide- healthcare resources in different jurisdictions may impact lines, the Expert Reviewers (see “Committee List”) were upon physician and patient options and decisions. As the consulted for their input and critique. All recommenda- general nature of guidelines cannot provide individualized tions were reviewed by and approved by the Expert Com- guidance for all patients in all circumstances, this document mittee. In the event of disagreement regarding wording, the should not be used as a legal resource.6 consensus recommendations were reworked until all Steer- ing and Expert Committee members were in agreement. SCREENING A draft version of the full document was reviewed by the International Expert Reviewers (see “Committee List”). Re- Introduction visions were incorporated where relevant. Early detection and immediate referral of children with retinoblastoma (Rb) increases the possibility of saving lives Disclosures and eyes, and preserving useful vision. Vision screening in Funding for the development of the guidelines was pro- babies and children at appropriate ages and intervals, and vided by: Childhood Cancer Foundation, Candlelighters screening of babies’ eyes, may identify tumours at earlier Canada, the Pediatric Oncology Group of Ontario, and stages, when more treatment options are available and the the Canadian Ophthalmological Society. All committee chance of cure is high. Moreover, healthcare costs are re- members were volunteers and received no remuneration or duced, resources are redirected to high-risk patients, and honoraria for their participation in the guideline develop- unnecessary clinic visits and worry for unaffected family ment process. Funding for translation of the guidelines members are eliminated. The general population risk of de- from English to French was provided by the Canadian veloping Rb is approximately 1 in 15,000 live births.1 Ophthalmological Society. Funding for printing and dis- This chapter will highlight the presenting signs and semination of the guidelines was provided by a grant to the symptoms of Rb, and delineate an examination schedule to CRBS by the Institute of Human Development, Child and screen children for eye problems, intended to improve early Youth Health and the Knowledge Synthesis and Exchange detection of Rb in Canada. Branch of the Canadian Institutes of Health Research. All members declared they had nothing to disclose regarding Common Presentations of Retinoblastoma any relationships with industry or other organizations. Reviews of 100 Rb cases in the United Kingdom (UK)12 and 1654 in the United States (US)13 showed that the most Table 1. Criteria for assigning a level of evidence to common presenting signs are LEUKOCORIA