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.

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Objectives To evaluate the long-term treatment outcomes in intraocular retinoblastoma (RB) including the associated factors for eventual treatment with external beam radiotherapy (EBRT) and enucleation as well as to analyse the risk factors for metastasis and death in extraocular RB. Methods Retrospective analysis of 390 eyes from 256 (89.8%) intraocular RB and 29 (10.2%) extraocular RB cases diagnosed and treated between October 1998 and May 2018 at one of the largest tertiary care centers in Turkey. Results Of 351 intraocular RB eyes, 53.3% had group D/E disease at presentation. 75 (21.4%) of 351 eyes underwent primary enucleation. Of the remaining 276 eyes undergoing eye-conserving treatments, 201 (72.8%) were salvaged. Most of these eyes were treated using intravenous chemotherapy and/or focal treatments [transpupillary thermotherapy (TTT) and cryotherapy] initially. EBRT was eventually required in 48 (17.4%) eyes and secondary enucleation in 75 (27.2%) eyes. At mean follow-ups of 76.7 and 39.7 months for intraocular and extraocular RB cohorts, respectively, 180 (46.2%) eyes underwent primary/secondary enucleation and exenteration. Overall, 13 cases developed metastasis and 9 died. Two patients with trilateral RB also expired. Multivariable risk factors for enucleation were the presence of vitreous seeds ( p < 0.001), absence of EBRT administration ( p = 0.033), 5–9 TTT applications compared with no TTT ( p = 0.031), and each 1 mm increase in tumour base diameter ( p < 0.001). Univariate factors predictive of metastasis were the presence of extraocular RB detected by imaging methods ( p < 0.001) and extrascleral/optic nerve cut end involvement at histopathological examination ( p < 0.001). Conclusions In our series, 72.8% of the intraocular RB eyes undergoing eye-conserving treatments were saved. The globe salvage rate for all intraocular and extraocular RB eyes was 53.8% and the overall survival rate was 96.1%.

Idiopathic orbital inflammation (IOI) is a benign inflammatory condition usually confined to the orbit but extraorbital extension can also occur. IOI has been classified into categories including anterior, diffuse, posterior or apical, myositis, and dacryoadenitis. Other rare types of IOI include periscleritis, perineuritis, and focal mass. Diagnosis is based on careful history, clinical findings, computed tomography, and magnetic resonance imaging findings. An orbital biopsy is usually done for accessible orbital lesions such as dacryoadenitis. For other types such as myositis and apical IOI where surgery is difficult or dangerous, orbital biopsy is not initially considered. The mainstay of therapy consists of systemic corticosteroids, but other options including external beam radiotherapy, antimetabolites, alkylating agents, T-cell/calcineurin inhibitors, lymphocyte inhibitors, tumor necrosis factor-α inhibitors, and surgical debulking have also been used.

This article offers an update on diagnosis, management, and prognosis of the major lacrimal gland lesions.

Objectives To report the swept-source optical coherence tomography angiography (SS-OCTA) findings in choroidal and retinal tumors. Methods A retrospective noncomparative interventional case series of 60 eyes having various choroidal and retinal tumors imaged with SS-OCTA (Topcon DR1 Triton Plus, Tokyo, Japan) between September 2018 and February 2020 was conducted. Inclusion criteria were tumor thickness <4 mm, tumor base diameter <10 mm, and tumor location at the posterior pole. Results Choroidal nevi usually demonstrated well-defined borders, hyperreflective internal structure, and no outer retinal involvement on SS-OCTA. Choroidal melanoma, in contrast to nevi, usually had ill-defined borders (p = 0.018), mixed hyperreflective-hyporeflective or hyperreflective internal structure (p = 0.014), and demonstrated outer retinal involvement (p < 0.001). Circumscribed choroidal hemangioma usually presented with well-defined borders, a hyperreflective internal tumor structure with multiple dilated interconnected tumor vessels intermixed with signal void areas representing connective tissue. Optic disc melanocytomas showed a hyporeflective plexus related to blocking of signal by the pigment and an intact radial peripapillary capillary network. There was flow on the surface and slightly deeper within the lesion on B-scan angiography overlay. Retinal astrocytic hamartomas had well-defined borders and a hyperreflective vascular plexus in the superficial and deep retina. Outer retina and choriocapillaris showed hyporeflective change due to shadowing/masking from calcium or high blood flow in the lesion. Conclusions Each of the different retinal and choroidal tumors studied in this series presented with different SS-OCTA features to aid in the differential diagnosis of these conditions. Good quality images are obtained in patients with good fixation and tumors <3 mm in thickness located at the posterior pole.

Purpose: To review the authors' experience in the diagnosis of retinoblastoma and to explore the frequency of intraocular conditions that mimic this malignancy according to patient age at presentation. Methods: This was a retrospective observational study including 549 patients (769 eyes) who were referred for confirmation and/or management of retinoblastoma between October 1998 and June 2019 at a single tertiary center. A detailed ocular examination was done by the same ocular oncologist under general anesthesia for every patient. Results: Of 549 patients referred for diagnostic confirmation or management of retinoblastoma, 393 (71.6%) patients were found to have retinoblastoma and 156 (28.4%) patients received the diagnosis of pseudoretinoblastoma. The mean patient age at presentation was 52.1 months, ranging from 1 to 276 months. The most common diagnoses among patients with pseudoretinoblastoma younger than 1 year were persistent fetal vasculature (PFV) (n = 19; 28.8%), Coats disease (n = 7; 10.6%), chorioretinal coloboma (n = 4; 6.1%), retinal dysplasia (n = 4; 6.1%), and retinal detachment (n = 4; 6.1%). In patients with pseudoretinoblastoma who were 1 to 5 years old, the most common diagnoses were Coats disease (n = 10; 25.6%), PFV (n = 7; 17.9%), and optic disc hypoplasia (n = 3; 7.7%). Patients older than 5 years were most likely to have Coats disease (n = 8; 15.7%), optic disc drusen (n = 5; 9.8%), retinopathy of prematurity (n = 4; 7.8%), and combined hamartoma (n = 4; 7.8%). Conclusions: This study shows that 28.4% of patients referred for suspicion or management of retinoblastoma were classified as having pseudoretinoblastoma. The most common conditions causing diagnostic confusion with retinoblastoma included PFV and Coats disease, similar to previous publications from both high-and low-income countries. [ J Pediatr Ophthalmol Strabismus . 2021;58(3):161–167.]

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