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.
PURPOSE. To evaluate peripapillary and macular vessel density in eyes with dysthyroid optic neuropathy (DON) and its correlation with visual function. METHODS. Patients diagnosed as thyroid-associated ophthalmopathy (TAO) with or without DON and healthy participants were recruited. All subjects underwent a complete ophthalmic examination and optical coherence tomography angiography centered on the fovea and the optic nerve head. Microvascular measurements were summarized as vessel density in the whole image and in each subfield. Visual function, including best-corrected visual acuity (BCVA), visual field (VF), and visual evoked potential (VEP), were assessed for all TAO patients. Areas under the receiver operating characteristic curves (AUROCs) were applied to evaluate the diagnostic accuracy of vessel density for DON. RESULTS. A total of 23 healthy eyes, 41 TAO eyes without DON, and 30 with DON were studied. The radial peripapillary capillary whole image vessel density (rpc-wiVD) and optic nerve head whole image vessel density (onh-wiVD) were significantly decreased in DON eyes compared with healthy and non-DON eyes (all P < 0.05). The decrease was more profound in the temporal peripapillary subfields than in others. The impairment of visual function (i.e. BCVA, VF, and VEP) was positively associated with the reduction of onh-wiVD and rpc-wiVD but not related to the rarefaction of macular microvasculature. Moreover, the onh-wiVD showed desirable diagnostic capacity to distinguish the DON eyes from NDON eyes (AUROC, 0.75). CONCLUSIONS. A decrease in vessel density in the peripapillary area is evident in eyes with DON. The attenuation in peripapillary perfusion significantly correlates to the extent of visual impairment.
Thyroid associated ophthalmopathy (TAO) is an autoimmune inflammatory disorder which disfigures appearance, threatens vision, and results in a pronounced loss of quality of life. The diversity and ethnic difference of the disease manifestations have made it difficult to tailor therapies for each patient. Few studies have analyzed its characteristics in Chinese populations. We therefore enrolled 354 patients with moderate-to-severe TAO from February 2015 to July 2016. A single ophthalmologist consistently performed detailed ophthalmic examinations. Orbital computed tomography or magnetic resonance imaging scans were performed to verify enlarged extraocular muscles. Multiple linear regression was used to analyze the association between sex, age, smoking, family history of thyroid diseases, degree of proptosis and disease severity. The mean age of males (46.56±11.08 years) was significantly higher than that of females (41.39±years), with a female-to-male ratio of 1.09. The females and males between 31~40 and 41~50 years, respectively, had the highest incidence of TAO. 81.48% of the patients suffered hyperthyroidism. TAO was diagnosed either after (47.17%) or simultaneously with thyroid dysfunction (27.68%). Proptosis (91.24%), eyelid retraction (83.33%), together with eyelid swelling (79.38%) and extraocular muscle enlargement (75.42%), were the most common clinical sign. 19.77% of patients manifested lower eyelid retraction. The mean values of exophthalmos and asymmetry on proptosis were 19.94±3.45mm and 2.18±2.06mm, respectively in males, 18.58±3.31mm and 1.61±1.53mm, respectively in females. The severity of disease was significantly associated with male, older age, smoking, family history of thyroid diseases and degree of proptosis. We found several differences in Chinese compared with White. The female-to-male ratio and mean value of exophthalmos were significantly lower than the data of White. Inferior and superior rectus became the most common extraocular muscles. Lower eyelid retraction should be included in diagnostic criteria in Asian patients. Understanding these differences, may allow better identification and treatment for TAO in China.
Single nucleotide polymorphisms (SNPs) of p53 rs1042522, MDM2 rs2279744 and p21 rs1801270, all in the p53 pathway, which plays a crucial role in DNA damage and genomic instability, were reported to be associated with cancer risk and pathologic characteristics. This case-control study was designed to analyse the association between these SNPs and retinoblastoma (RB) in a Chinese Han population. These SNPs in 168 RB patients and 185 adult controls were genotyped using genomic DNA from venous blood. No significant difference was observed in allele or genotypic frequencies of these SNPs between Chinese RB patients and controls (all P > 0.05). However, the rs1042522 GC genotype showed a protective effect against RB invasion, as demonstrated by event-free survival (HR = 0.53, P = 0.007 for GC versus GG/CC). This effect was significant for patients with a lag time >1 month and no pre-enucleation treatment (P = 0.007 and P = 0.010, respectively), indicating an interaction between p53 rs1042522 and clinical characteristics, including lag time and pre-enucleation treatment status. Thus, the rs1042522 SNP may be associated with RB invasion in the Han Chinese population; however, further large and functional studies are needed to assess the validity of this association.
IntroductionRetinoblastoma (Rb) is the most common intraocular malignant tumor in children, accounting for approximately 3%-4% of all malignant tumors in children aged 0-14 years (1,2). Currently, in developed countries with advanced tools for medical diagnosis, Rb can be detected early, thus leading to an improved survival rate of more than 95% for this high-mortality disease. However, the survival rate from this disease is still as low as approximately 50% worldwide (3). This may be due to the poor diagnostic and therapeutic capacity, as well as generally poor health conditions, experienced in low-income countries. This leads to late diagnosis of the disease and thus a high incidence of extraocular complications and a high risk of distant metastasis (4). Rb can be cured if the disease is diagnosed early, if disease severity is appropriately assessed, and if proper treatments are applied (5). Therefore, this study aimed to identify clinical characteristics of Rb patients, to find the potential relationship between clinical manifestations and survival rates from Rb, and to provide a clinical basis for prediction of disease outcomes and treatment options. Materials and methods Clinical dataThis retrospective study with complete follow-up data included 314 patients who were diagnosed as having Rb at the Zhongshan Ophthalmic Center at Sun Yat-sen University from January 2003 to February 2011. Clinical data, including laterality of eyes, sex, age at diagnosis, presenting signs, lag time before treatment, survival conditions, and survival time, were recorded. Patients were followed until death or the cutoff date (February 2013), whichever occurred first. The mean follow-up time was 41.4 ± 27.9 months (median, 33 months; range, 1-110 months).Patients' clinical presentations at diagnosis were categorized into 6 groups based on the description given by the patients or their families: 1) leukocoria (white reflection from the pupil); 2) strabismus; 3) inflammation Background/aim: The aim of this study was to investigate the potential correlation between clinical characteristics and prognosis of patients with retinoblastoma (Rb). Materials and methods:This retrospective study included 314 Rb patients. Clinical data including laterality of eyes, sex, age, presenting signs, lag time, and survival were recorded and analyzed.Results: Leukocoria is the most common clinical presentation of Rb. Patients with isolated leukocoria had shorter lag time and exhibited a high survival rate (85%, 5 years). Patients with strabismus and blurred vision, and who were older and had longer lag time, exhibited an excellent survival rate (100% and 92.3%, respectively, 5 years). Patients with exophthalmos had the longest lag time and the lowest survival rate (17.8%, 5 years). The 5-year survival rate of patients with a lag time of ≤6 months was 84.7%, which was significantly higher than that of patients with a lag time of >6 months (64.7%). Conclusion:Leukocoria, strabismus, and blurred vision are mild clinical manifestations of Rb that are associ...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.