Global Retinoblastoma Study Group IMPORTANCE Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.OBJECTIVES To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. DESIGN, SETTING, AND PARTICIPANTSA total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. MAIN OUTCOMES AND MEASURESAge at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. RESULTSThe cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low-and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI,, and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI,). CONCLUSIONS AND RELEVANCEThis study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs.

We present our experience over the long-term of monitoring of visual function in children with craniopharyngioma. Our study involves an analysis of all paediatric patients with craniopharyngioma younger than 16 at the time of diagnosis and represents a series of predominantly sub-totally resected tumours. Visual data, of multiple modality, of the paediatric patients was collected. Twenty patients were surveyed. Poor prognostic indicators of the visual outcome and rate of recurrence were assessed. Severe visual loss and papilledema at the time of diagnosis were more common in children under the age of 6. In our study visual signs, tumour calcification and optic disc atrophy at presentation are predictors of poor visual outcome with the first two applying only in children younger than 6. In contrast with previous reports, preoperative visual field (VF) defects and type of surgery were not documented as prognostic indicators of poor postoperative visual acuity (VA) and VF. Contrary to previous reports calcification at diagnosis, type of surgery and preoperative VF defects were not found to be associated with tumour recurrence. Local recurrence is common. Younger age at presentation is associated with a tendency to recur. Magnetic resonance imaging (MRI) remains the recommended means of follow-up in patients with craniopharyngioma.

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We report the case of a 52-year-old man who presented with a 10-day history of right eye and eyelid inflammation and intermittent diplopia following blunt trauma to the right eyebrow. The CT and MRI scans revealed an extraconal soft tissue mass on the orbital floor with maxillary and ethmoid sinus wall destruction, which on orbital biopsy was proven to be an Alveolar Rhabdomyosarcoma. The patient had a central retinal vein occlusion due to mass effect that resulted in total visual loss at 2 months. He was referred to oncologists who treated him according to the paediatric RMS protocol and is still in remission at 2-year follow-up. Rhabdomyosarcoma is a rare tumour in adults which requires multi-disciplinary management. This highlights the necessity of considering rhabdomyosarcoma in the differential diagnosis of orbital tumours in any age group.

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