Search

The surgical management of persistent fetal vasculature (PFV) is challenging and the visual outcome can be compromised by coexisting ocular pathologies and amblyopia. It can be considered for relief of retinal traction and improved cosmetic appeal when a squint or a posterior capsular cataract is present. In the case presented in this report, the intermittent exotropia improved from 45 to 30 degrees in one year, which suggests an improvement in binocular single vision. There was also a resolution of the leukocoria and retinal traction. The patient underwent the following examinations: visual activity, slit-lamp biomicroscopy, intraocular pressure (Goldmann), fundus photography (OCT TOPCON, 3D OCT-1 Maestro, Topcon, Tokyo, Japan), B-scan Doppler ultrasonography (Mindray DC-N3, Mindray, Shenzhen, China), Keratometry (Topcon KR 800, Topcon, Tokyo, Japan), and axial length (Sonomed 300AP+A Scan/Pachymeter, Sonomed Escalon, Lake Success, NY). Intraocular lens (IOL) power was calculated with the Sanders-Retzlaff-Kraff (SRK) II formula. During surgery, a rigid polymethyl methacrylate (PMMA) IOL was inserted into the sulcus after excision of the lesion and anterior vitrectomy. The first day's postoperative evaluation included visual acuity, corneal transparency, depth of anterior chamber, pupil size, shape, pupillary reaction to light, and position of the IOL. Intraocular pressure was normal within the follow-up period. Fundus photography and B-scan examinations were performed at one month and one year.

Background Homozygous protein C (PC) deficiency is a potentially fatal disease with ocular blinding presentation or sequela. Case presentation A 5 month-old boy was presented for evaluation of leukocoria. He had a history of frequent bruises and PC deficiency, treated with warfarin. His intraocular pressure was normal. In the left eye leukoma with anterior segment dysgenesis, shallow anterior chamber, and cataract were observed. Fundus was not visible. B-scan revealed a closed funnel retinal detachment. His right eye had a normal anterior segment and a thin retina with anomalous retinal vascular branching at equator and peripheral retina. A fibrovascular tuft on the optic nerve head with induced traction on superior arcade was visible. Total loss of a and b wave of both were appreciated in electroretinography (ERG). Fluorescein angiography (FA) showed very severe leakage at the junction of the vascularized and non-vascularized retina and optic nerve head. Favorable outcome was achieved with lasering of avascular retina in the right eye. Conclusion The potential for protein C deficiency should be assessed in all infants with leukocoria, anterior segment dysgenesis, retinal detachment and retinal dysplasia. Early diagnosis could save the child’s life and vision.

Background/objectives Early diagnosis, care and treatment of retinoblastoma is a challengeable issue for Iranian health system. This study was designed and conducted in a referral multidisciplinary centre in the capital city of Iran to evaluate management, care, prognosis and survival rates of paediatric patients with retinoblastoma. Methods In this retrospective study, a total number of 309 patients younger than 15 years, diagnosed with retinoblastoma, who referred for diagnosis and treatment to MAHAK's Pediatric Cancer Treatment and Research Center (MPCTRC) from 2007 to 2017 were evaluated. All data were analyzed via SPSS version 22 software in regard of parametric and non-parametric data. Survival rates were analyzed using the Kaplan-Meyer method. Results The mean age of patients was 20 months and the majority of patients (77%) had leukocoria as a common clinical symptom at the time of diagnosis. Primary treatment methods were systemic chemotherapy (94%), laser (35%) and primary enucleation (28%). Relapses occurred in nearly 42% of cases, and the median time from diagnosis to the first relapse was 9 months. At the time analyzing the data, 11% of patients died. Patients' 5-year OS and RFS rates were 79.6% and 41.5%, respectively. Conclusion Comparing results with other conducted studies identifies that the recurrence rate was high in our considered patients. Also, OS and RFS rates in our study were not as considerable as other reports. Screening methods, updating protocols and follow-up of patients may lead to improvements in survival rates of patients with retinoblastoma.

Introduction: A masquerade syndrome is an atypical presentation of a neoplastic process that mimics an inflammatory condition. In this paper, we focus on orbital pseudocellulitis. Case Series: Our case series includes 5 retinoblastoma patients with orbital pseudocellulitis at presentation. In 3 patients the disease was bilateral, in 1 trilateral, and in 1 unilateral. The eyes with pseudocellulitis were enucleated, while the fellow eyes were treated conservatively, when affected. Four patients responded well to the therapy and showed remission of the tumor. The patient with trilateral retinoblastoma did not respond to therapy and died of disease. Discussion: Differential diagnosis with infectious orbital cellulitis is extremely important. Patients with orbital cellulitis present with fever, sinusitis, leukocytosis, and raised inflammatory markers, while ophthalmoscopic examination is negative and imaging studies show sinus involvement. On the contrary, patients with retinoblastoma do not show systemic inflammation, while ophthalmoscopic examination reveals leukocoria, buphthalmos, and an intraocular tumor mass associated with retinal detachment. Magnetic resonance imaging shows intralesional calcifications and soft tissue edema without sinus involvement. Histology confirms the diagnosis. Conclusions: Medical history, physical examination, and imaging studies are crucial in the diagnosis of retinoblastoma-associated orbital pseudocellulitis. Retinoblastoma should be excluded in all patients with signs of pre-septal orbital cellulitis through fundoscopy and/or imaging studies

To report on the characteristics and outcome of management of Coats’ disease, and to describe a novel surgical technique for management of stage 3B with total retinal detachment (RD) by scleral external drainage with anterior chamber (AC-maintainer) placement before the drainage without pars plana vitrectomy. A retrospective study of 26 eyes from 25 Coats’ patients. Outcome measures included: demographics, presentation, laterality, stage, treatment, and outcome. The median age at diagnosis was 3.5 years. Twenty patients (80%) were males, and all except 1 girl had unilateral disease. The presenting complaint was impaired vision in 13 (50%) eyes, leukocoria in 6 (23%) eyes, and strabismus in 7 (27%) eyes. Based on the Shields classification; 3(12%) eyes were stage 1, 9 (35%) eyes were stage 2, 10 (38%) eyes were stage 3, 2 (8%) eyes were stag e4, and 2 (8%) eyes were stage 5. Primary management included cryotherapy (54%), laser photocoagulation (27%), intravitreal anti-vascular endothelial growth factor (23%), intravitreal steroids (23%), and surgical drainage (12%). The 3 eyes in stage 3B (with total exudative RD) underwent subretinal fluid drainage with AC maintainer, and all had the retina reattached completely for 6 months follow up after the surgery. At mean follow up 21 months, 4 (15%) eyes were enucleated, 19 (73%) eyes had improvement or stabilization in visual acuity. Coats’ disease usually presents at advanced stage with poor visual prognosis, individualized management with close follow up are mandatory to save the eye. Subretinal fluid drainage with AC maintainer is a safe and useful technique for repairing total RD in eyes with stage 3B Coats’ disease.

Objetivos: Descrever os resultados do teste do reflexo vermelho em recém-nascidos a termo.Identificar fatores associados ao resultado do teste do reflexo vermelho e comparar o tempode internac ̧ão entre pacientes com teste do reflexo vermelho duvidoso e normal.Métodos: Estudo transversal descritivo dos resultados do teste do reflexo vermelho feito emmaternidade de hospital terciário entre 2014 e 2018. Foi ainda feito estudo de caso-controleaninhado para pesquisa de variáveis antropométricas, gestacionais e neonatais associadas aoresultado do teste do reflexo vermelho.Resultados: Foram identificados 121 casos de teste do reflexo vermelho duvidoso em 11.833recém-nascidos. Foram confirmadas 16 alterac ̧ões, 4 consideradas graves: 2 casos de glaucomacongênito, um de catarata e um de coloboma. As médias de peso de nascimento (p = 0,04), com-primento (p = 0,03) e perímetro cefálico (p = 0,02) foram menores nos pacientes com teste doreflexo vermelho duvidoso, entretanto sem um tamanho de efeito relevante (d = -0,21; -0,22e -0,25; respectivamente). A proporc ̧ão de pacientes brancos, pardos e negros foi estatisti-camente diferente entre os grupos (p < 0,001), com maior chance de resultado duvidoso parapardos (OR = 2,22) e negros (OR = 3,37) em comparac ̧ão a brancos. O teste do reflexo vermelhoduvidoso levou a um aumento no tempo de internac ̧ão de 62 para 82 horas (p < 0,001).Conclusões: O teste do reflexo vermelho foi capaz de identificar 4 alterac ̧ões graves em 11.833recém-nascidos (0,03%). Nos 121 recém-nascidos em que o teste do reflexo vermelho foi classi-ficado como duvidoso, houve aumento de 20 horas no tempo de internac ̧ão hospitalar, porém seconfirmou alterac ̧ão grave em apenas 3,3% deles. Diferenc ̧as no reflexo vermelho entre brancos,pardos e negros devem ser consideradas. Objectives: Describe the results of the red reflex test in full-term newborns, as well as identifyfactors associated with red reflex test outcome and compare hospital length of stay betweenpatients with inconclusive and normal red reflex test results.Methods: Descriptive cross-sectional study of the results of the red reflex test performed in atertiary hospital maternity unit between 2014 and 2018. A nested case-control study was alsoperformed to search for anthropometric, gestational, and neonatal variables associated withthe outcome of the red reflex test.Results: There were121 identified cases of inconclusive red reflex test in 11,833 newborns.Sixteen alterations were confirmed, four considered severe: two cases of congenital glaucoma,one of cataract, and one of coloboma. Mean birth weight (p = 0.04), length (p = 0.03), and headcircumference (p = 0.02) were lower in patients with inconclusive red reflex test; however with-out a relevant effect size (d = −0.21, −0.22, and −0.25, respectively).The proportion of white,mixed-race, and black patients was significantly different between the groups (p < 0.001), witha higher chance of inconclusive results in mixed-race (OR = 2.22) and black (OR = 3.37) patientswhen compared to whites. An inconclusive red reflex test led to an increase in hospital lengthof stay from 62 to 82 hours (p < 0.001). Conclusions: The red reflex test was able to identify four severe alterations in 11,833 newborns(0.03%). In the 121 newborns in which the red reflex test was classified as inconclusive, therewas a 20-hour increase in the hospital length of stay, but a severe alteration was confirmedin only 3.3% of them. Differences in red reflex between white, mixed-race, and black patientsshould be considered.

Retinoblastoma is the most common primary ocular malignancy(Eye cancer) of children. It gets developed in the eyes of children born due to mutation in the RB1 gene. Retinoblastoma is also called leukocoria which develops from the immature cells of a retina. The proposed idea is to develop a web-based application to detect eye cancer and its response to the treatment. Deep learning algorithms like Convolution Neural Network(CNN) can be used for classifying eye images to detect the presence or absence of Retinoblastoma. The proposed system applies pre-processing techniques such as smoothening and resizing to the fundus images of the eye for better results. Image processing techniques such as Histogram equalization, Morphological Operations, Unsharp Masking, Image Intensity Adjustment, and Segmentation are used for tumor extraction. After extraction, the tumor regression is calculated by comparing the area of consecutive stages of the tumor. Thus the proposed system serves as a helping aid to health professionals to track the response of their treatment to such patients.

Congenital tumors, in particular orbital teratomas, develop in the fetus and may be recognized prenatally during ultrasound examinations or within the first few years after birth. Retinoblastoma is the most frequent intraocular malignant tumor in children. Extremely rare in fetal eyes, it may develop soon after birth and in most cases is recognized within the first 3 years of life, owing to leukocoria or screening of children with a positive family history. Medulloepithelioma of the eye is a rare tumor of the ciliary body that usually presents after 2 years of age, but it can be seen in newborns or adults.

PURPOSE To determine the age distribution of children with Coats disease and the impact of age at diagnosis on the visual prognosis. METHODS Consecutive Coats disease cases aged 18 years or younger at diagnosis were retrospectively included. Clinical and imaging parameters were analyzed by comparative, correlation, survival, univariate, and multivariate statistics. RESULTS Ninety-eight patients were included. At diagnosis, mean age was 5.4 years ± 4.3 years (1 month-18 years). Younger age at diagnosis was correlated with more severe disease stage (P < 0.0001, r = -0.52), which was confirmed by survival analysis (P < 0.0001). Comparative analysis was performed between patients younger and older than 4 years at diagnosis. Leukocoria or strabismus was more frequent at presentation in patients younger than 4 years (P < 0.0001). Areas of peripheral nonperfusion and peripheral telangiectasia were more extensive at presentation in younger than older patients (P = 0.0003 and P = 0.039). Foveal sparing at diagnosis was less frequent in younger than older patients (2% vs. 23%, P = 0.002). The incidence of structural complications or enucleation during follow-up (mean duration: 5.9 years ± 4.5 years) was higher, and last-recorded visual acuity was lower in younger than older patients (P = 0.001 and P = 0.0009). Final logarithm of the minimal angle of resolution visual acuity was negatively correlated with age at diagnosis (P = 0.001, Spearman r = -0.42). Multivariate analysis indicated that disease stage (P < 0.0001), but not age at diagnosis (P = 0.07), independently influenced the last-recorded visual acuity. CONCLUSION Onset of Coats disease in children of younger age is associated with more severe manifestations, more advanced stage, and worse visual outcome. Age, correlated with disease stage, should be considered a prognostic marker in Coats disease.

Introduction Retinoblastoma is the most frequent malignant intraocular tumor in childhood, and both its cure and the sequelae arising from it, mainly depend on an early diagnosis. There is currently no consensus on its diagnostic and therapeutic management. Patients and methods A descriptive, retrospective, and non-randomised study was conducted on a series of cases (39 patients – 58 eyes), treated during the period 2006–2013, in the Regional Reference Center for Tumors of the National Health Service Quality Agency. Results The most frequent presentation sign is leukocoria (71.8%), followed by strabismus (17.9%). All cases of bilateral tumor had a germline mutation of the RB1 gene, and 20% had a family history. Stage E was observed in 55% of the patients, and 90% required chemotherapy treatment. The eye was maintained in 57% of those who had mild stages, compared to 43% who maintained it in advanced stages. Conclusions This analysis included 58 eyes. There are no previous studies in our community and there are few series so numerous throughout the country. Based on non-standardised treatment, the most appropriate is chosen according to the characteristics of the tumor. The multidisciplinary management, formed by ophthalmology, pediatric oncology, radiotherapy, and radiophysical oncology, is fundamental for the selection of the most appropriate treatment. Chemo-reduction, along with consolidation treatments, offers encouraging results in the control of these tumors, especially in those of less severity. Enucleation continues to be the method of choice in the most advanced staging with vitreous involvement, with the importance of early diagnosis being highlighted.

BACKGROUND To present a rare retinal disorder that should be considered in the differential diagnosis of retinoblastoma. METHODS A 2-year-old boy presented with left ocular discomfort, leukocoria, and a left divergent squint. Examination of the left eye revealed abnormalities in the anterior segment, and fundoscopy showed an irregular white calcified mass with fibrosis and traction toward the lens. As the ocular discomfort worsened, enucleation of the left eye was performed. RESULTS Histopathological and immunohistochemical assessment of the enucleated eye established the diagnosis of retinal neuronal ectopia. CONCLUSION We believe that this case is unique in the human retina and highlights the need for specialist differential diagnosis. Although rare, retinal neuronal ectopia should be considered in the differential diagnosis of retinoblastoma.

Endophthalmitis is most commonly seen in adults shortly after cataract surgery. It is rare in the pediatric population. Presented here is a case of endophthalmitis following strabismus repair in a 9-month-old patient with Trisomy 21. Leukocoria was observed 15 days after surgery, but the child did not exhibit symptoms of infection, and the ordering clinician requested an MRI of thebrain and orbits to assess the possibility of retinoblastoma. This case highlights the importance of MRI in the evaluation of leukocoria and displays typical MRI findings of this infrequently-encountered condition in the pediatric population. Keywords: Endophthalmitis, Leukocoria, Strabismus

An 8-year-old boy presented with white reflex in the right eye (RE) for 6 months. RE visual acuity was perception of light present with projection of rays accurate in all quadrants. Slit-lamp examination revealed numerous emulsified silicone oil droplets ([figure 1][1]) filling the anterior chamber

Aim: This paper presents a 20-year review of retinoblastoma in Johannesburg, South Africa, aiming to better characterize the disease in this sub-Saharan setting. Methods: The study represents a retrospective case series of retinoblastoma patients presenting to Charlotte Maxeke Johannesburg Academic Hospital and Chris Hani Baragwanath Academic Hospital between January 1, 1992, and December 31, 2011. Results: The total number of cases identified was 282, with 245 meeting the study inclusion criteria. Retinoblastoma comprised 6.9% of the total pediatric oncology presentations; 65.3% were unilateral, 34.3% bilateral, and 0.4% trilateral. The overall male-to-female ratio was 1.08. The mean age at presentation overall was 32.6 months (median 28.0), in the unilateral group 39.4 months (median 33.0), and in the bilateral group 19.7 months (median 17.0). The mean delay to presentation overall was 7.0 months (median 4.0). The most frequent presenting symptoms were leukocoria (37.1%) and proptosis (34.7%). The distribution of disease stages at presentation (International Retinoblastoma Staging System) was 1.6% stage 0, 24.1% stage I, 27.8% stage II, 16.3% stage III, and 25.3% stage IV. 26.5% defaulted care. The 5-year Kaplan-Meier survival estimate was 57.7% overall. Conclusion: This study shows that delayed presentation and refusal of therapy remains a significant barrier to effective treatment in this African setting.

Retinoblastome sind auserordentlich seltene, in ca. der Halfte der Falle erbliche fruhkindliche Augenneoplasien. Sie zeigen hochproliferative, CRX-positive („cone-rod homeobox protein“) undifferenzierte Tumorzellen (z. T. auch mit Rosettenbildung). Das Staging richtet sich nach der pTNM-Klassifikation und dem „International Retinoblastoma Staging System“ (IRSS). Die Grundlage fur eine eventuelle systemische Chemotherapie und/oder Radiatio ist der Nachweis einer postlaminaren Optikusinfiltration, ausgepragten Choroideainfiltration, Sklerainvasion oder sogar extraokularer Ausbreitung. In morphologisch schwierigen Fallen sind immunhistochemische Untersuchungen (CRX und Ki67) auserst hilfreich. Retinozytome (Retinome) zeigen keine undifferenzierten Tumorareale, sondern ausschlieslich eine Photorezeptordifferenzierung sowie eine mittels Ki67 nachgewiesene auffallend geringe Proliferation.

Purpose To report the clinical and histopathological findings of atypical intravitreal growth of a retinoblastoma with a multi-branching configuration. Observations A 7-month-old boy was referred to our hospital due to leukocoria in the right eye. Ophthalmic examinations identified multi-branching vessels surrounded by diaphanous tissue behind the lens in the right eye. Imaging modalities showed microphthalmos, band-shaped calcification, and cystic lesions in that eye. Because it was difficult to rule out congenital anomalies such as persistent fetal vasculature due to the atypical clinical features of retinoblastoma, we performed a biopsy using a limbal approach. An intraoperative rapid pathological examination led to the definitive diagnosis of retinoblastoma. The right eye was enucleated and postoperative adjuvant chemotherapy was administered. Immunohistochemical staining of the enucleated eyeball showed that the tumoral cells and diaphanous tumoral tissue around the vessels were positive for neuron-specific enolase and Ki-67 and partially positive for glial fibrillary acidic protein (GFAP). The vessels of the diaphanous tissues near the tumoral mass were stained by GFAP and those behind the lens were stained faintly. Conclusions and importance We described an atypical retinoblastoma of pseudo-persistent fetal vasculature with a multi-branching configuration, which expanded the clinical spectrum of retinoblastoma. Such a specific growth pattern of the embryonic tumor might occur with a combination of retinal development, retinal vasculature, and hyaloid vascular system.

Background: Retinoblastoma is the commonest primary intraocular malignancy of childhood. Under-standing the different modes of presentation with timely intervention are associated with prognosis. Objective: To determine the clinical profile of retinoblastoma and its association with optic nerve infiltration by tumor. Methods: A retrospective analysis of the clinical records and histopathological reports of patients admitted with retinoblastoma in a tertiary heath care center, eastern Nepal (June 2009 to July 2012) was carried out. Results: A total of 27 patients (28 eyes) with retinoblastoma were studied. The mean age at presentation was 2.89 ± 0.93 years. The mean duration of symptoms to presentation was 3.35 month, ranged from 7 days to 2 years. Male to female ratio was 3:2. Thirty-three percent patients were Muslims. Twentyseven patients (96.3%) had unilateral eye involvement. The commonest mode of presentation was leukocoria in 23 eyes (85.2%) followed by redness 9 eyes (33.3%), proptosis in 5 eyes (18.5%) and phthisis bulbi in one eye (3.7%). Histopathological reports of 26 eyes confirmed the diagnosis of retinoblastoma. One patient with distant metastases was referred to oncology center. Infiltration of the optic nerve by tumor cells was seen in five eyes (18.5%); of which two cases had proptosis (p-0.166). At two years follow up, recurrence was seen in one patient with proptosis and optic nerve infiltration (p-0.136). Age at presentation was positively associated with recurrence of tumor (p-0.005). Conclusion: Leucokoria was the most common mode of presentation of retinoblastoma. Larger sample size with longer follow up is required to come to a definite association with optic nerve infiltration by tumor. Health Renaissance 2015;13 (3): 129-136

This is a retrospective investigation of patients with Retinoblastoma (RB) conducted from 2013 to 2016 at the Quanzhou Maternal and Child Health Hospital (China). Demographic and clinical characteristics, treatment outcomes, and risk factors were studied. In total, 436 patients were included in the study. Most of the findings obtained in this study are consistent with other previous reports. The male: female ratio was 1.41:1, and the unilateral: bilateral ratio was 1.51:1. Leukocoria was the most common presenting sign (79.44%), followed by strabismus (12.38%). While, the overall rates of enucleation (15.82%) and mortality (0.92%) were markedly lower than in other reports of RB in Chinese, and most of the patients received conservative therapy. There were signficant differences (p < 0.001) in the age of at first sign and diagnosis, and treatment modalities between patients with bilateral and unilateral RB. The treatment modalities did not show a specific trend over the 3-year study period. Our results suggest that an incorrect initial diagnosis and long lag time may be risk factors for ineffective treatment and a poor prognosis in patients with RB. This was a comprehensive retrospective investigation in which the sample size exceeded most previous retrospective investigations of RB. Our study confirmed that early detection, accurate diagnosis, and active intervention are conducive to control of retention of patients' vision. Fundus examinations, education regarding the early signs of RB, and optimization of the therapeutic strategy of RB may play important roles in ocular health.

Background: Eye tumors are commonly found and fatal among pediatric patients. The immediacy of management depends on the diagnosis, and is increased when the patient’s characteristics are known. This study aims to describe the characteristics of pediatric patients diagnosed with eye tumors. Methods: This is a descriptive retrospective study using secondary data involving 102 medical records of pediatric patients diagnosed with eye tumors in the National Eye Center Cicendo Eye Hospital Bandung in the period from January 2013 to December 2014. Results: The characteristics of 102 subjects: 54 (52.9%) were female, 59 (57.8%) were 1 to 4 years old, and 79 (77.5%) were from West Java. The characteristics of the tumors: 42 (41.2%) presented with a chief complaint of leukocoria, 73 (71.6%) were malignant, 68 (66.7%) were retinal, and the most common management was surgery (64.7%). The most common malignant tumor was retinoblastoma (93.2%) while the most common benign tumor was dermoid cyst (31%). Conclusion: Patients were frequently 1–4 years old and the most common diagnosis were retinoblastoma and dermoid cyst. D OI: 10.15850/amj.v4n1.970

The acronym “PHACE” refers to the syndromic association of posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, and eye anomalies. Till now, less than 400 cases of PHACE syndrome have been reported in the medical literature. Its etiopathogenesis is still unknown, and a great deal of genetic and molecular research is required. Moreover, there is always a high probability of misdiagnosis due to the certain factors such as mildly symptomatic patients, hasty diagnosis of relatively common simulating syndromic entities, and low awareness among medical fraternity about the standard diagnostic criteria for PHACE syndrome. Therefore, we report here a case of PHACE syndrome in a 2-year-old female child presenting with Dandy-Walker malformation, microphthalmia, leukocoria, hearing loss, and regressing lesions of large facial infantile hemangioma.

A 3-year-old boy was referred with suspected leukocoria in the right eye, detected in all smartphone photographs taken by his parents. His medical and family history was unremarkable. The visual acuity was 20/20 in both eyes. Eye examination revealed full motility and normal pupils. The ocular fundi and ultrasonography appeared normal. The child was looking to the left side in his photographs, away from the camera, and illuminating the nasal retina. In this circumstance, the optic nerve head acts as a diffuse reflector, reflecting the light out of the eye through the pupil. In the case of normal clinical findings in a child presenting leukocoria in smartphone photographs (photoleukocoria), the ophthalmologist should suspect the possibility of the described phenomenon avoiding other studies.

Retinoblastoma is a pediatric malignant tumor, common in children up to 5 years old. It is a disease commonly developed from retinoblasts, therefore the eye presents as the primary symptom leukocoria (white reflex that occurs when the retina is exposed) to this signal occurs due to displacement of the retina caused by tumor growth. The disease can affect only one eye (unilateral) or both eyes (bilateral). Depending on the region in which the tumor develops, the optic nerve and CNS may be compromised. Phenylpropanoids are widely studied anti-tumor bioactives in medicinal chemistry, which are present in several studies with good results against brain, breast, prostate and other tumors. This research aims to present, through in silico tools, bioactive with antitumor profile for retinoblastoma of 3,4,5-trihydroxycinnamic acid derivatives. For this, 128 derivatives were designed in ChemAxon © Marvin Sketch 18.21 program to obtain their 2D structures, then were imported into HyperChemTM 8.0.6 program (RMS 0.1kcal.mol-1 in 600 cycles) for the structures to have their structures. energies minimized by molecular mechanics (MM +) and semi-empirical method (AM1). A prediction model of biological activity was performed by the KNIME Analytics Platform 3.6, using molecules contained in the chemical structure database (ChEMBL, https://www.ebi.ac.uk/chembl) with known IC50 for proteins involved with the disease. Thus, other pharmaco-chemical parameters were also analyzed, such as ligand-receptor interaction through molecular docking, absorption rate, cytotoxicity risk prediction and CPCA chemometric analysis in the Volsurf + program to identify the molecular characteristics that best explain antitumor action. . We concluded that it was possible to elect 10 promising bioactive derivatives from the series worked in this research.

We aim to study certain histopathological characteristics of the retinoblastoma (RB) tumors in globes with clinically advanced RB, which can be correlated with the high-risk features including: tumor differentiation, growth pattern and focality. We also aim to reclassify the tumor pathologically in the analyzed cases according to the American Joint Committee on Cancer (AJCC) 8th edition in an attempt to compare the validity of this newest classification. Retrospective study of patients diagnosed with clinical RB of groups D and E during the period: January 2013 to December 2017 at King Khaled Eye Specialist Hospital (KKESH) and King Abdulaziz University Hospital (KAUH). Charts were reviewed for demographic and basic clinical data. Histopathological features (tumor differentiation, growth pattern, focality, seeding, and presence of choroidal invasion (focal versus massive), level of optic nerve (ON) invasion, anterior chamber invasion, scleral and extra-scleral extension, and finally the documented pathological tumors (pT) classification based on the AJCC 7th edition were collected. We included 146 eyes with advanced retinoblastoma (groups D and E) from 104 patients. Gender distribution was almost equal with 54 males. Median age was 12 months (range 1–96 months), and a mean age was 17.1 ± 15.1 months. No family history was found in the majority (94.2%). Clinically, the most common presenting symptoms: leukocoria (73.3%), squint (33.6%) and least commonly proptosis (2.7%). A total of 106 enucleation specimens were reviewed. Degree of RB differentiation was: well differentiated (18%), moderate (30%), poor (35%), and undifferentiated (17%). The most common high-risk features were ON invasion (68%) with the majority being prelaminar in nature, choroidal invasion (45%) with more than half being massive, iris/trabecular meshwork (TM)/Schlemm's canal invasion (8.5%), and then intra-scleral/extra-scleral extension (5%). Less tumor differentiation doubles the relative risk of massive choroidal invasion (with 95% CI) with a statistically significant P value (P = 0.030). Endophytic RB was associated with vitreous seeding, while exophytic tumors were associated with subretinal seeding (P = 0.001) each. Ten cases with combined ON invasion (pre-laminar) and focal choroidal invasion were reclassified pT2a in the AJCC 8th edition instead of pT2b in the older 7th edition. Our demographic and basic clinical data for advanced RB are comparable to other similar reports. The tumor growth pattern correlates well with the type of seeding observed in enucleated globes with RB. Less tumor differentiation is a relative risk of massive choroidal invasion. It is advocated to implement the AJCC 8th edition by ocular pathologists worldwide aiming to histopathologically classify the RB tumor in cases for selective adjuvant chemotherapy.

Retinoblastoma is a malignant cancerous tumor that arises in the retina. This type of intraocular cancer occurs in 94.1% in children under 5 years of age and with an incidence of 1 in every 16,000-18,000 births. Given this problematic situation, the present research proposes the development of a system for the detection of retinoblastoma composed of an app and an algorithm of image processing, to identify the presence of leukocoria in the iris that is shown as a white pupil in flash photos. The system of the early detection of retinoblastoma was designed and implemented, afterwards was tested with a control group (20) and a case group (15). The total sample (35) was composed of members between 6 months and 45 years old, where 25.71% are female and the remaining 74.29% are male. The 92% of the total sample indicates the correct functioning of the Retino App mobile application. Besides, the system's algorithm has correctly identified the 93.33% of the cases and the 95% of the controls.

Background and ObjectivesEarly diagnosis and intervention is essential to achieve optimal outcomes for most pediatric eye diseases. Educating parents/caregivers to recognize early signs of disease and consult a healthcare professional is critical to achieving this aim. We evaluate the effectiveness of an eye-health information pamphlet on parents’ level of concern and their help-seeking intention if they observed leukocoria or strabismus.MethodsPregnant women attending a metropolitan antenatal clinic were recruited to the study. Participants were randomly assigned to receive a pamphlet on either pediatric eye health (intervention) or strategies for play (control). The primary outcome measure was a change in the parents’ level of concern if they observed leukocoria or strabismus. The secondary outcome measure was a change in their help-seeking intention if either sign was observed.ResultsOf the 518 women enrolled, 382 (73.7%) completed the post-test survey. At follow-up, women who received the intervention were more likely to report a higher level of concern if they observed leukocoria (OR 1.711 [CI: 1.176-2.497] p=0.005]) and were less likely to have a delayed help-seeking intention. (OR 0.560 [CI 0.382-0.817] p =0.003) No change in the level of concern for strabismus was identified between the groups; however, at follow-up, women who received the intervention were less likely to delay help-seeking (OR 0.318 [CI 0.125-0.806] p=0.016).ConclusionProviding parents with relevant, evidence-based information can significantly improve their knowledge and positively influence help-seeking intentions if leukocoria or strabismus are observed.Trial registrationANZCTR.org.auidentifier: ACTRN12617001431314p;World Health Organization Universal Trial Number: U1111-1203-0485Table of Contents SummaryThis study reports the results of a randomised controlled trial evaluating a novel, evidence-based, theory-informed pediatric eye-health information pamphlet for parents.What is known on this subjectLack of parental awareness of signs of pediatric eye disease (leukocoria and strabismus) delays consultation with healthcare professionals (help-seeking), contributing to late diagnosis and poor outcomes. Providing parents with relevant health information can improve their child’s health outcomes.What this study addsUsing an RCT to evaluate a novel health intervention, this study demonstrates that providing parents with evidence-based, theory informed pediatric eye-health information can improve their knowledge and help-seeking intentions if leukocoria or strabismus are observed in their child.

Abnormal red reflexes in children can be signs of serious vision and life-threatening problems. Bilateral abnormality or asymmetry in color or brightness of the red reflex can represent entities such as anisometropia, strabismus, cataracts, or retinoblastoma and requires prompt evaluation by an ophthalmologist.

A smartphone app searches baby pictures for common and rare eye disorders., The “red reflex test” is used to screen children for leukocoria (“white eye”) in a standard pediatric examination, but is ineffective at detecting many eye disorders. Leukocoria also presents in casual photographs. The clinical utility of screening photographs for leukocoria is unreported. Here, a free smartphone application (CRADLE: ComputeR-Assisted Detector of LEukocoria) was engineered to detect photographic leukocoria and is available for download under the name “White Eye Detector.” This study determined the sensitivity, specificity, and accuracy of CRADLE by retrospectively analyzing 52,982 longitudinal photographs of children, collected by parents before enrollment in this study. The cohort included 20 children with retinoblastoma, Coats’ disease, cataract, amblyopia, or hyperopia and 20 control children. For 80% of children with eye disorders, the application detected leukocoria in photographs taken before diagnosis by 1.3 years (95% confidence interval, 0.4 to 2.3 years). The CRADLE application allows parents to augment clinical leukocoria screening with photography.

BACKGROUNDRetinoblastoma (RB), the commonest early childhood intraocular tumor, is most often related to mutations in the RB1 gene with an incidence of 3% of all pediatric tumors. It has good prognosis if diagnosed early but it is life-threatening when diagnosed late.OBJECTIVETo study the Molecular Genetic Analysis of Retinoblastoma (RB) in Sudanese families.METHODSThirty one (n=31) clinically and histopathologically diagnosed cases of RB attending Makkah Eye Complex (MEC) Orbit clinic (Khartoum, Sudan) were included in this Molecular Genetic RB Analysis. Fresh blood samples extracted from seven RB patients and 15 close families for DNA extraction and PCR were sent for Genetic Sequencing and In silico approach for “Exon 18 mutations” which is one of the highly mutated exons worldwide.RESULTSThe majority of patients (41.9%) were below five years old. Females were 58.1%, males were 41.9%. Leukocoria was the commonest sign at presentation (41.9%). RB Unilaterality were in (77.4%) while Bilaterality in 19.4%. Both eyes were equally affected 50% each. The age at diagnosis time ranged from 0.02 to five years. Consanguinity of parents was very high (85.7%), the 1st degree cousins were less (28.6%) while the 2nd degree was high (57.1%). The patients’ ethnic background and geographical area were from seven different tribes; all belong to the Western Sudan. The molecular genetic study showed that exon 18 was free of mutation among the seven patients + their three relatives. The Functional Analysis and (SNPs) prediction study of exon 18 from NCBI data base showed that the various computational approaches used (SIFT, PolyPhen-2, I-mutant and Project hope) identified 16 reported mutations worldwide, three of which (rs137853292, rs375645171 and rs772068738) are major nsSNPs (non-synonymous) which might contribute to native RB1 protein malfunction and ultimately causing carcinoma.CONCLUSIONRB mainly affected children under five years and both sexes are equally affected. Unilaterality was predominant. Consanguinity plays a role in inheritance and the majority of patients were from Western Sudan. The most commonly detected deleterious mutations worldwide in exon 18 were not found in the Sudanese studies samples. Further screening for the highly reported mutations in exons 8, 10 and 14 or Next Generation Sequencing (NGS) are recommended. In silico tools are useful in studying the functional analysis of SNPs.

Leukocoria is the most common presenting sign of intraocular retinoblastoma in developed countries [1]. The asymmetric white pupil light reflex may be noted on photographs, in dimly lit environments by the family, or by a general pediatrician at a well-child visit [2]. An abnormal pupil reflex is also frequently observed in several pediatric ocular conditions including cataract (Fig. 2.1), and it is important to clinically differentiate retinoblastoma from simulating diagnoses (Table 2.1). Directed by the available demographic and historical data, a comprehensive clinical and ultrasound examination in the office is usually sufficient to make the correct diagnosis. Occasionally, an examination under anesthesia may be necessary to distinguish retinoblastoma from simulating conditions, such as Coats’s disease, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, or astrocytic hamartoma. Clinical findings associated with the commonly diagnosed conditions are summarized in the following section (Table 2.2) [3–5].

Retinoblastoma is the most common malignant ocular tumor of childhood and one of the most common pediatric solid tumors. Delays in diagnosis are multi-factorial, including poor awareness by public and healthcare professionals, poor access to appropriate healthcare services, delays in referral process causing increased lag time and general socioeconomic problems. To investigate the effect of socioeconomic status on the extent of disease and outcomes of retinoblastoma. In this retrospective study, medical records of 141 retinoblastoma patients were reviewed. Most of the patient was diagnosed with the late stage of retinoblastoma and diagnosed between the age of 3 to 4 years old (43.26%). Protrusion of the eye was the most frequent presenting sign (66,67 %), while 43 patients (30.50%) came with leukocoria during first time visit to the hospital. Most of the patient was treated with a combination of exenteration and chemotherapy (43,97 %) due to an advanced stage. Based on socioeconomic status, most patients came from either low or middle economic status. Due to delay in diagnosis, most patients were treated with exenteration in combination with radiotherapy/chemotherapy (43.26%). Socioeconomic factors have a big role in the history and outcomes of retinoblastoma. It is required to improve human resources and facilities to provide better diagnosis and management of retinoblastoma in children.

Coats’ disease is an exudative vasculopathy that usually develops in children. The conventional treatment is laser photocoagulation and cryotherapy. Use of anti-VEGF agents is controversial and future studies are required to determine its role in the management of exudation and edema from Coats’ disease.

Purpose: To determine whether a white-eye detector smartphone application (app) can be used as a screening tool to detect early signs of leukocoria in a clinical practice. Methods: A prospective, single-visit study of children aged 1 to 6 years presenting for a complete pediatric ophthalmologic examination was conducted. All children who met the enrollment criteria were screened by an orthoptist with the CRADLE (Computer Assisted Detector of Leukocoria) smartphone app for an iPhone operating system (iOS) (iPhone 7; Apple, Cupertino, CA). Cycloplegic retinoscopy and fundus examination were performed 30 minutes after one to two drops of a pediatric combination drop, comprising tropicamide 1% and phenylephrine 2.5%, were instilled. A comparison between the two methods yielded sensitivity, specificity, and negative likelihood ratio values. Results: A total of 244 eyes of 122 children were included in the study. Nine eyes of 244 (3.6%) had leukocoria evaluable by penlight caused by amblyogenic cataract, 1 (0.4%) patient had retinopathy of prematurity stage 5, and 3 (1.2%) patients had retinoblastoma. The sensitivity of the white-eye detector app was 15.38% (95% confidence interval [CI]: 1.92% to 45.45%), the specificity was 100% (95% CI: 98.48% to 100.00%), and the negative likelihood ratio was 0.85 (95% CI: 0.67 to 1.07). Conclusions: A smartphone photoscreening app able to detect leukocoria may provide valuable support for children's parents. However, it cannot be considered an alternative to the ophthalmoscope for children. [ J Pediatr Ophthalmol Strabismus . 2019;56(4):229–232.]

Purpose To evaluate the cosmetic efficacy and safety of an indigenous novel corneal tattooing technique using a self-prepared candle soot pigment. Methods This pilot observational study involved 22 eyes of patients at a Bengaluru-based ophthalmology setting. The study considered only eyes with nil or low visual potential. Eyes with active ocular inflammation, nasolacrimal obstruction, severe hypotony, and shrunken globe due to phthisis bulbi were excluded. The surgery was carried out under aseptic conditions using a self-prepared carbon soot pigment. Different methods such as lamellar, surface needle micropuncture, machine-assisted surface tattooing, or a combination were used for pigment application. Results Ten eyes underwent combined lamellar and surface tattooing; lamellar tattooing was performed for 11 eyes, and surface tattooing for one eye. Nineteen patients underwent limbus-to-limbus corneal tattooing and three patients had undergone focal tattooing to cover nasal pterygium scar, inferior iridectomy, and leukocoria due to calcific cataract. Nearly 91% were subjectively satisfied with the tattooing technique and 82% had excellent cosmetic coverage along with subjective satisfaction. None of the subjects required a repeat surgery or augmentation of tattooing. There was no reported case of corneal inflammation, epithelial erosions, infiltrations, infections, nonhealing areas, stromal melting, or any other complications. Conclusion This novel procedure, involving self-prepared carbon soot pigment tattooing, provides excellent cosmetic results and high patient satisfaction. It is relatively safe, easy to perform, and the conventional steps of tattooing such as pigment procurement, storage, and sterilization can be avoided, as the carbon pigment is freshly prepared under aseptic conditions.

We report the clinical findings and imaging in an 11-month-old male referred to the pediatric ocular oncology service for leukocoria. The diagnosis of concomitant myelinated nerve fibers and retinoblastoma group O/C was established. In this case, the association of these two conditions led to early diagnosis of retinoblastoma with successful treatment and good visual outcome.

Purpose: This study is aimed to investigate the presence of Human papillomavirus (HPV) DNA in tumors obtained from sporadic retinoblastoma patients. Methods: One hundred six tumor tissues obtained from sporadic RB patients were analyzed for HPV infection by use of both seminested PCR and real-time quantitative PCR. Results: Of 106 RB patients, 55 were male and 51 were female. The mean age at diagnosis was 26.77 ± 15.36 (mean ± Std. dev) months. Almost all patients presented with leukocoria. Molecular investigation by different methods revealed no HPV positivity in any tumor genome. Conclusion: Our study demonstrates no association between HPV and RB, postulating HPV may not be a major risk factor in the etiology of RB.

Purpose Retinoblastoma is the most common intraocular malignancy of childhood. In most cases, parents are the first to notice leukocoria and other symptoms before undergoing a prolonged period of stress before diagnosis. The purpose of this study was to determine prediagnostic intervals of patients with retinoblastoma at an oncology tertiary center (Instituto Nacional de Cancer) in Rio de Janeiro, Brazil, and relate them to stage at diagnosis, eye salvage, and survival. Methods Parents or caregivers of children with retinoblastoma registered between January 2006 and September 2013 were interviewed using a semistructured individually applied questionnaire, concerning their trajectory before registration. Results Out of 76 patients, 39 (51%) were girls, 52 (68%) had unilateral retinoblastoma, and 24 (32%) had bilateral retinoblastoma, totaling 100 affected eyes. The most common stage of diagnosis was the intraocular group, with 63 (83%) patients; nine (12%) were extraocular, and four (5%) had metastatic disease. During the follow-up time of 37 ± 24.5 months, 10 (13%) patients died and 70 (70%) eyes were enucleated. Mean family interval was 1.6 ± 2.6 months, mean medical interval was 5.0 ± 6.2 months, mean referral interval was 0.2 ± 1.4 months, and mean overall interval was 7.1 ± 6.9 months. In univariate analysis, age at diagnosis, maternal education, medical interval, and overall interval were significantly related to advanced stage at diagnosis and survival. In multivariate analysis, maternal education and medical interval were significantly related to advanced stage at diagnosis and survival. No variables affected eye salvage. Conclusion Medical interval was responsible for 70% of the overall interval; therefore, programs or campaigns targeting retinoblastoma early diagnosis should focus emphasize in medical awareness.