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Retinoblastoma, a rare cancer mostly affecting children, makes up ~3% of childhood cancers in developed countries. However, it is more prevalent in sub-Saharan Africa, where late diagnosis often leads to advanced disease and higher mortality rates. Here, we present a 3-year-old girl presented with leukocoria and esotropia in her left eye for 3 months. Imaging revealed lens calcification and vitreous seeding, classified as group D, stage I. The child underwent enucleation to save her life, and histopathology showed Flexner–Wintersteiner rosette cells. This case underscores the importance of eye exams at birth and during childhood. Primary healthcare providers should recognize symptoms like leukocoria and esotropia to facilitate early diagnosis of retinoblastoma. [ABSTRACT FROM AUTHOR]

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Purpose: To describe a case of subretinal hydatid cyst presenting as leukocoria and treated with limbal vitrectomy. Methods: A single case report demonstrated by multimodal imaging. Results: An otherwise healthy 28-month-old boy was admitted to our hospital with a complaint of leukocoria and underwent combined lensectomy and vitrectomy under albendazole therapy because of vitreous space-occupying subretinal cyst. Systemic workup showed no involvement in other organs. Cyst content was adequately aspirated with a 39-gauge needle, the cyst wall was freed from surrounding attachments to the retina, and the nasal choroid and was extracted through a limbal incision using a cryoprobe. Nasal retinotomy and retinectomy area was lasered and tamponaded with silicone oil. Histopathologic examination confirmed the diagnosis of hydatid cyst disease. Silicone oil was removed at postoperative third month. Retina stayed attached, and the patient had a fix and follow vision under contact lens and amblyopia treatment during the 21-month follow-up period. Conclusion: This is the youngest subretinal hydatid cyst case in the literature. Large subretinal hydatid cyst may rarely cause leukocoria in children without any involvement in other organs. Vitrectomy with limbal approach and 39G needle-assisted cyst fluid aspiration and cryo-extraction seems to be a safe and successful surgical option in such cases. [ABSTRACT FROM AUTHOR]

Leukocoria is an aberration of the eyeball that interferes with normal reflection. It shows up as a white or gray pupillary reflex rather than the bright red or orange pupil of the other eye. Leukocoria can be brought on by a variety of ocular pathologies, with retinoblastoma being the most common. We present the case of a 17-month-old guy who had unilateral leukocoria and whose orbital MRI was ordered on the basis of retinoblastoma suspicion. The results, however, were more suggestive of Coats disease than retinoblastoma. Telangiectasia and exudate, which frequently afflict males’ unilateral eyes, are the hallmarks of Coats’ illness. Depending on the stage of the disease, there are differences in its severity, course, and outlook. It is crucial to get therapy and a diagnosis for retinal problems as soon as possible. Although uncommon, there are still many people who are not familiar with Coats’ disease. This paper aims to describe imaging findings in Coats' disease.

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Copyright of Current Retina Journal / Güncel Retina Dergisi is the property of Anadolu Kitabevi Basim Yayim Medikal Turizm Kirtasiye Tic. Ltd. Sti. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma (Rb) in the world. METHODS: A comprehensive search without the time and language restrictions was conducted in international databases, including MEDLINE, Scopus, Web of Science, and PubMed. The search keywords were “retinoblastoma” OR “retinal Neuroblastoma” OR “retinal glioma” OR “retinoblastoma eye cancer” OR “retinal glioblastoma”. RESULTS: The worldwide incidence of Rb is 1 in 16 000-28 000 live births, but was higher in developing compared to developed countries. Several attempts for improving early detection and treatment had increased the Rb survival rate from 5% to 90% in developed countries over the past decade, but its survival was lower in developing countries (about 40% in low-income countries) and the majority of mortalities occurred in developing countries. The etiology of Rb could be viewed as genetics in the heritable form and environmental and lifestyle factors in the sporadic form. Some environmental risk factors such as in vitro fertilization; insect sprays; father's occupational exposure to oil mists in metal working, and poor living conditions might play a role in the occurrence of the disease. Although ethnicity might affect Rb incidence, sex has no documented effect and the best treatment approaches were now ophthalmic artery chemosurgery and intravitreal chemotherapy. CONCLUSION: Determining the role of genetics and environmental factors helps to accurately predict the prognosis and identify the mechanism of the disease, which can reduce the risk of tumor development.

Copyright of Current Retina Journal / Güncel Retina Dergisi is the property of Anadolu Kitabevi Basim Yayim Medikal Turizm Kirtasiye Tic. Ltd. Sti. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Current Retina Journal / Güncel Retina Dergisi is the property of Anadolu Kitabevi Basim Yayim Medikal Turizm Kirtasiye Tic. Ltd. Sti. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Vision-related disorders are common in children. Therefore, eye examination and thorough visual assessment by first-contact physicians are crucial in children. This study aimed to evaluate the knowledge of and attitude toward children's eye disorders among pediatricians and family physicians in the Ministry of National Guard Health Affairs-Western Region (MNGHA-WR) of Saudi Arabia. Methods: In this observational, cross-sectional study, we used a self-administered, web-based questionnaire. The sample size was calculated to be 148 pediatricians and family physicians (of 240 in total) currently working at MNGHA-WR. The first section of the questionnaire dwelled on demographics, while the second section addressed the physician's knowledge of and attitude toward commonly encountered ophthalmological pathologies in children. Data collected were entered into Microsoft Excel and then transferred to IBM SPSS version 22 for statistical analysis. Results: A total of 148 responses (92 family physicians and 56 pediatricians) were received. Most of the participants were residents or staff physicians (n = 105, 70.9%). The mean knowledge score of the respondents was 54.67% ± 14.5%. Participants' knowledge was further subclassified using Bloom's original cutoff points into high (n = 4, 2.7%), moderate (n = 53, 35.8%), and low (n = 91, 61.5%) levels of knowledge. Regarding practices, 120 (81%) participants performed ophthalmic examinations; however, only 39 (26.4%) conducted routine examinations as part of every child's visit. Fundus examinations were performed by 25 (16.9%) physicians. A significant deficiency in knowledge was noted in those with < 1 year of work experience (P = 0.014). Although statistically not significant (P = 0.052), family physicians possessed better knowledge than pediatricians regarding children's eye disorders. On the contrary, more pediatricians performed eye examinations than family physicians (P = 0.015). The male sex was also associated with higher rates of eye examination (P = 0.033). Conclusion: An unsatisfactory level of knowledge of eye disease among participating doctors was reported. The proportion was significantly higher among residents and staff physicians. Therefore, awareness efforts should be incorporated in both family medicine and pediatrics residency programs to limit the number of cases of ocular disorders going undiagnosed in children. [ABSTRACT FROM AUTHOR]

Mutasem Elfalah,1 Tamara AlNawaiseh,1 Dima Atoum,2 Ahmad AlKhassawneh,2 Mona Mohammad,3 Ibrahim AlNawaiseh,3 Yacoub A Yousef3 1School of Medicine, The University of Jordan, Amman, Jordan; 2School of Medicine, AlYarmouk University, Irbid, Jordan; 3Department of Surgery (Ophthalmology), King Hussein Cancer Center, Amman, JordanCorrespondence: Yacoub A Yousef, Department of Surgery (Ophthalmology), King Hussein Cancer Center, Queen Rania Al-Abdullah Street, P.O Box 1269, Amman, 11941, Jordan, Tel +00962787228749, Email yyousef@khcc.joBackground: Eye salvage and survival for patients with retinoblastoma (RB) can be improved by enhancement of early diagnosis. This study aims to investigate the impact of modifying the teaching curriculum for medical students about awareness of this condition.Methods: Medical students completed a questionnaire about RB, preluded by a photograph of a child with leukocoria. Participants were divided into group A (138 participants) and group B (151 participants) who are medical students who have completed the ophthalmology rotation before and after implementing modifications on teaching curriculum that focuses on the red flags of RB consecutively.Results: Most participants considered leukocoria an abnormal sign. Group A had significantly lower knowledge about diagnosis for RB (P=0.0001). Participants scored higher in group B for the critical questions, such as knowing that RB is a fatal disease (P=0.041) that needs urgent treatment (P=0.042). Only three (2%) students adopted the “watch and wait” strategy in group B, compared to 16 (12%) in group A (P=0.0013). Overall, proficiency score (≥ 90%) was achieved by 12 (8%) students in group B, but only three (2%) students in group A. Only 41 (27%) students in group B, compared to 90 (65%) students in group A, failed to obtain a sufficiency score (≥ 70%) in the questionnaire.Conclusion: Modifying the teaching curriculum of the ophthalmology rotation with an intensified focus on awareness of the life-threatening condition retinoblastoma improved medical students’ knowledge of this malignancy. This intervention is one of the modalities that can lead to a reduction in diagnosis and referral delays and improvement in outcome and survival.Keywords: leukocoria, medical students, retinoblastoma

Purpose: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome. Observations: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed bilateral, closed funnel retinal detachments consistent with a clinical diagnosis of Norrie disease. In addition, the baby had congenital heart defects, hearing loss, and dysmorphic facies. His mother carried a clinical diagnosis of Kabuki syndrome. Genetic testing of the baby revealed an Xp11.3 microdeletion that included the NDP and KDM6A genes, confirming the baby had both Norrie disease and X-linked Kabuki syndrome. The mother was found via ultrawide-field fluorescein angiography to have asymptomatic peripheral retinal vascular anomalies, consistent with NDP-associated familial exudative vitreoretinopathy (FEVR). Conclusions and importance: This is the first reported case of Norrie disease together with X-linked Kabuki syndrome. Contiguous gene deletions may explain some of the variable systemic involvement in Norrie disease.

Background: Coats disease may cause diagnostic dilemma because of its variable clinical presentation that can be suspicious of retinoblastoma. Late sequelae of the disease are blinding with possible enucleation. We demonstrate the main histopathological findings of Coats enucleated eyes with literature review. Methods: This was a retrospective study of all enucleated globes diagnosed as Coats disease over 30 years and were reviewed by two pathologists. The corresponding demographic data, clinical presentation, pre-operative clinical impression, and indication for enucleation were collected. Descriptive analysis of our own series data was performed. Our findings were then correlated to published data that were collected from 1983 to 2021 from the PUBMED database in English-written language. Shields classification was used as an inclusion criterion for the published reports to be analyzed. Results: We had seven enucleated globes with Coats disease. Mean age at presentation was 3.2 years (range 3 months to 9 years). Male predominance was observed in 6 and all cases were unilateral. Strabismus was the most common initial presentation (57%, n = 4), followed by leukocoria (43%, n = 3). Indication for enucleation was mostly suspected retinoblastoma (57%, n = 4). Four eyes were classified as stage 4, and 2 had advanced stage 5 changes. Histopathologically, subretinal fluid with lipid-laden macrophages was seen in all cases, the anterior chamber was shallow in 5/7 with angle neovascularization in 2/7. Telangiectatic vessels were clearly observed in 4/7. Conclusion: Coats disease is a potentially visually disabling disease that is mostly unilateral in 95%, has male predominance of 81%, and wide age range with a mean of 17 years. In Saudi Arabia, the disease seems to present at younger age, tends to be more advanced, and may be indistinguishable from retinoblastoma at the time of diagnosis. Shields staging of Coats is highly recommended to be followed clinically to unify the pathways for treatment and to correlate the concluded outcomes. [ABSTRACT FROM AUTHOR]

Abstract Background Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts, is a rare disease with autosomal recessive pattern occurring due to a mutation in CTC1, encoding conserved telomere maintenance component 1, gene. Besides retinal involvement, abnormalities in brain and osteopenia, serious life-threatening bleeding in gastrointestinal tract and portal hypertension can be observed. Case presentation A 6-year-old girl with Coats plus syndrome presented to the pediatric emergency department with vomiting blood and blood in stool. An upper and lower gastrointestinal endoscopy revealed esophageal varices and vascular telangiectasia in the pyloric antrum, duodenum, and colon. She received palliative care and the bleeding was stopped after receiving intravenous octreotide. She then was followed in the pediatric gastroenterology, neurology, and ophthalmology clinics. She was later hospitalized and admitted to the intensive care unit as she continued to have intermittent gastrointestinal system bleeding. She eventually died due to severe gastrointestinal system bleeding. Conclusions Coats plus syndrome can lead to life-threatening gastrointestinal bleeding and portal hypertension. As Coats plus syndrome is quite rare, there is little published data on this syndrome. This report presents a case of Coats plus syndrome as a rare cause of gastrointestinal bleeding and portal hypertension.

Retinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year worldwide. Rb is the prototypical hereditary cancer in humans. Autosomal dominant inheritance is seen in 30-40% of cases whereas the non-inherited sporadic type accounts for the remaining 60-70%. Rb arises due to inactivation of both alleles of the Rb tumor suppressor gene, which results in a defective Rb protein (pRB) with subsequent cell cycle impairment and uncontrolled cell proliferation. Patients with Rb have survival rates higher than 95-98% in industrialized countries but mortality remains high in developing countries. For example, the mortality rate in Africa is 70%. In all cases of intraocular and extraocular retinoblastoma, there is a need for new therapies that are more effective and carry less risk of toxicity. The Bruckner test is a practical and easy test for the detection of Rb, this test consists of assessing the fundus reflex through the pupil (red reflex) in both eyes simultaneously with a bright coaxial light produced with the direct ophthalmoscope. Rb can be detected by the Bruckner test showing a pupil that shines white or “Leukocoria”. Although the diagnosis of Rb remains essentially clinical, the newly identified biomarkers could contribute to early molecular detection, timely detection of micrometastases and establish new therapeutic options for Rb. [ABSTRACT FROM AUTHOR]

Background: Retinoblastoma is the most common primary intraocular malignancy of childhood. The present study was undertaken to overcome the scarcity of data regarding the epidemiology, demographic and clinical profile, and nature of the first health-care professional consulted.Materials and Methods: A retrospective analysis of medical records was performed for all cases of retinoblastoma who presented to the department of ophthalmology and oncology between 2010 and 2017. A total of 54 cases were reviewed.Results: Unilateral disease was seen in 85.2% while 14.8% presented with bilateral disease with a median age of 3 years and 2 years, respectively, at diagnosis. The male: female ratio was 2:1. The most common presenting symptom was leukocoria which was noticed in 42 patients (77.7%), followed by red eye (33.3%) and proptosis (20.3%). The most common stage of presentation was Stage I (44.4%), followed by Stage IV (20.4%), Stage III (9.3%), and Stage II (5.6%). The median time to diagnosis was 8.7 months (range, 0.5-98.7 months), and the median time to treatment was 37.4 days (range, 0-645 days). Majority of the patients were referred by local ophthalmologists (48%), followed by general practitioners (20%), nurses (19%), and quacks (13%). Enucleation was the most preferred treatment modality (48.1%), followed by chemotherapy (33.3%), radiotherapy (13%), photocoagulation (3.7%), and exenteration (1.9%). The overall remission rate was 79.6%, while 12.3% had relapse and 7.4% died.Conclusion: The study showed a dire need for timely detection and treatment of retinoblastoma which is possible with improved awareness and better accessibility to health-care facilities. It also revealed a decrease in histopathological risk factors with chemoreduction. [ABSTRACT FROM AUTHOR]

Background and Purpose: Persistent fetal vasculature (PFV) is a complex congenital ocular condition, characterized by the incomplete regression of the embryonic hyaloid system. It encompasses a spectrum of abnormalities, affecting various ocular structures and presenting a range of fetal hyaloid remnants. Despite its long-standing recognition, the full extent of PFV's manifestations continues to evolve, unveiling novel findings, primarily driven by advancements in clinical experience and imaging techniques. This review focuses on the evolution of PFV management, emphasizing the disease heterogeneity and the consequent challenges in diagnosis and treatment., Methods: We present a comprehensive guide on PFV based on the current evidence, detailing its recognition, associated anatomical variations, the intricacies of surgical indications and techniques, and postoperative expectations., Conclusion: The progress over the last decade in innovative instruments and surgical techniques has not only enhanced functional and anatomical outcomes but also enriched our understanding of PFV. However, continued exploration and research remain pivotal for future breakthroughs in more effectively understanding and managing this complex ocular anomaly.

Retinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year worldwide. Rb is the prototypical hereditary cancer in humans. Autosomal dominant inheritance is seen in 30-40% of cases whereas the non-inherited sporadic type accounts for the remaining 60-70%. Rb arises due to inactivation of both alleles of the Rb tumor suppressor gene, which results in a defective Rb protein (pRB) with subsequent cell cycle impairment and uncontrolled cell proliferation. Patients with Rb have survival rates higher than 95-98% in industrialized countries but mortality remains high in developing countries. For example, the mortality rate in Africa is 70%. In all cases of intraocular and extraocular retinoblastoma, there is a need for new therapies that are more effective and carry less risk of toxicity. The Bruckner test is a practical and easy test for the detection of Rb, this test consists of assessing the fundus reflex through the pupil (red reflex) in both eyes simultaneously with a bright coaxial light produced with the direct ophthalmoscope. Rb can be detected by the Bruckner test showing a pupil that shines white or “Leukocoria”. Although the diagnosis of Rb remains essentially clinical, the newly identified biomarkers could contribute to early molecular detection, timely detection of micrometastases and establish new therapeutic options for Rb.

Retinopathy of prematurity (ROP) and retinoblastoma (RB) are well-described entities in premature babies. Although their pathogeneses are different, with ROP representing a disorder of interrupted development and RB a genetic disease, a few co-occurring cases have been reported, raising the possibility that the 2 conditions. Here, we report the sixth such case of co-occurring ROP and RB in an 8-month-old infant conceived by in vitro fertilization (IVF) who developed bilateral retinoblastoma a few months after treatment for advanced-stage ROP. While the ROP was initially adequately managed, bilateral RB necessitated bilateral enucleation. This case raises a number of important questions about whether IVF, ROP, and RB are causally related. Although the associations between IVF, ROP, and RB are likely to be coincidental, this case nevertheless highlights that ROP patients require regular follow-up for early diagnosis and treatment of ocular sequelae including RB.

Background: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts, is a rare disease with autosomal recessive pattern occurring due to a mutation in CTC1, encoding conserved telomere maintenance component 1, gene. Besides retinal involvement, abnormalities in brain and osteopenia, serious life-threatening bleeding in gastrointestinal tract and portal hypertension can be observed.Case Presentation: A 6-year-old girl with Coats plus syndrome presented to the pediatric emergency department with vomiting blood and blood in stool. An upper and lower gastrointestinal endoscopy revealed esophageal varices and vascular telangiectasia in the pyloric antrum, duodenum, and colon. She received palliative care and the bleeding was stopped after receiving intravenous octreotide. She then was followed in the pediatric gastroenterology, neurology, and ophthalmology clinics. She was later hospitalized and admitted to the intensive care unit as she continued to have intermittent gastrointestinal system bleeding. She eventually died due to severe gastrointestinal system bleeding.Conclusions: Coats plus syndrome can lead to life-threatening gastrointestinal bleeding and portal hypertension. As Coats plus syndrome is quite rare, there is little published data on this syndrome. This report presents a case of Coats plus syndrome as a rare cause of gastrointestinal bleeding and portal hypertension. [ABSTRACT FROM AUTHOR]

IntroductionRetinoblastoma is the most common intraocular malignant tumor in children. Its global incidence is estimated at 1 out of 15.000 to 20.000 births. The exact incidence of retinoblastoma in Algeria is unknown. It is cited among childhood cancersand thus occupies the 3rd place with 6.3% after leukemias and lymphomas. Its diagnosis is often late. Deaths from the disease are still recorded. This studyaims to document theepidemiological and clinical profile of retinoblastoma in western Algeria.Materials and methodsWe carried out a descriptive retrospective study over a period of 14 years, from March 1st, 2002 to December 31st, 2015. We included all cases of retinoblastoma originating from the western Algerian region, and hospitalized in the pediatric ophthalmology department of Canastel Hospital in Oran. Statistical analysis was performed using the Chi2 test for comparing percentages and student’s «t» test for averaging. The survival curves were performed according to the Kaplan-Meier method and compared by a log-Rank test.ResultsWe have diagnosed 140 cases of retinoblastoma, 91 unilateral cases (65%), 48 bilateral cases (34.3%) and one trilateral case (0.7%) with an average of 10 recorded cases / year. The sex ratio M / F = 1.25. The mean age at diagnosis was 26.56 months. 74% of these patients were living in rural areas. Family cases accounted for 8.57%. The telltale signs were leucocoria in 58%, buphthalmia 15%, strabismus in 3rd position with 13.5% followed by orbital cellulitis with 10%. The consultation delay is on average 4.1 months. 97% of unilateral retinoblastomas are diagnosedat stage IV or V and 20% of the eyes of the bilateral are at stages IV or V. Strabimus and leucocoria are associated with a better survival rate than orbital cellulitis and buphtalmia(p=0,018).ConclusionThe clinical profile of retinoblastoma in western Algeria is similar to that of developing countries, including Maghreb. The diagnosis is often late due to lack of screening and ignorance of the early telltale signs of the disease. More efforts should be focused on popularizing the earliest signs of the disease in the general population but also among primary health care physicians.

Copyright of Spektrum der Augenheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

To report the epidemiology, clinical characteristics, treatment and outcomes of patients with ocular toxocariasis. Retrospective review of patients diagnosed with ocular toxocariasis at a pediatric referral center from 1998 until 2018 in Costa Rica. 157 patients were diagnosed with ocular toxocariasis with a mean follow-up of 3.1 years. The mean age at presentation was 6.7 years old. The most common causes of consultation included decreased vision (29.9%), strabismus (26.7%), and leukocoria (19.7%). The most common findings included peripheral granuloma, posterior pole granuloma, and chronic endophthalmitis. Sixty-nine (43.9%) eyes had retinal detachment. Patients were managed with a variety of treatments including pars plana vitrectomy, systemic corticosteroids, anti-helminthic drugs or a combination of these. Most eyes did not exhibit functional improvement despite treatment. Most patients with pediatric ocular toxocariasis in Costa Rica often present late and despite treatment, most remain with poor vision in the affected eye. [ABSTRACT FROM AUTHOR]

Background: Coats' disease, described by George Coats in the early 1900s, is an idiopathic unilateral retinal vascular abnormality with exudation occurring in young males. It is characterized by retinal telangiectasia with intraretinal or subretinal exudation. Coats' disease is mostly diagnosed in the first to the second decade of life, with a common presentation of leukocoria. Younger patients have a more severe presentation and are associated with poor visual prognosis. Management of Coats' disease varies from observation, cryotherapy with anti-VEGFs (Vascular Endothelial Growth Factor), and surgery to enucleation. The mode of treatment depends on the age of presentation, the severity of the disease, and the stage of the disease. Through this video, we describe the clinical features, pathology, and surgical management of a 2-year-old child with grade 3B of Coats' disease. Purpose: To demonstrate successful surgical management of grade 3B of Coats' disease in a 2-year-old boy. Synopsis: Coats' disease mostly presents with a diagnostic dilemma due to its varied presentation. Early detection and treatment are the keys to salvaging the eye as well as the vision, hence, avoiding dreadful complications such as neovascular glaucoma or phthisis bulbi. We demonstrate successful surgical management of a child who presented with grade 3B of Coats' disease. Highlights: Through this video, we aim to describe the clinical features, pathology, and surgical management of a 2-year-old child with grade 3B of Coats' disease. Combination of external drainage with vitrectomy, challenges faced, and the importance of visual rehabilitation postoperatively. Video Link: https://youtu.be/0obpVTOkKKs

Objective: This study aims to evaluate the burden, demographic profile, clinical characteristics, and management of retinoblastoma (RB) cases at a tertiary care center., Material and Methods: This was a hospital-based study conducted in a tertiary care center in the Department of Ophthalmology from January 2018 to December 2022. All referred and newly diagnosed cases of RB coming to the outpatient department were included in the study after obtaining written informed consent from parents or guardians. Data collected were analyzed in terms of demographic profile, socioeconomic status, and clinical characteristics of the disease at the time of presentation and its treatment., Results: Out of 155,671 new patients seen in the outpatient eye department during the study period, 118 eyes of 94 patients were diagnosed with RB. The burden of disease was found to be 60.4 cases per 100,000 patients. Malignancy was unilateral in 74.47% and bilateral in 25.53% of cases. The male-to-female ratio was 1.7:1. The mean age at presentation was 30.86±19.5 months. A family history of RB was seen in 4.26% of cases. Of the patients, 80.85% belonged to upper-lower socioeconomic status. Most of the cases presented to us at an advanced stage of the disease (i.e., groups E and D)., Conclusion: Most of our cases present at an advanced stage of RB, resulting in poor outcomes and survival rates. It is necessary to organize awareness campaigns about the fatal nature of the disease so it can be diagnosed early, leading to better visual and survival outcomes., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. The Institutional Ethics Committee of Indira Gandhi Institute of Medical Science, Patna, issued approval 45/Acad. The Institutional Ethics Committee reviewed and discussed the application to conduct the study "Demography and Clinical Characteristics of Retinoblastoma Cases at a Tertiary Care Centre in Eastern India.". Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ali et al.)

BACKGROUND፡ Retinoblastoma (RB) is one of the most curable childhood cancers if early detected and treated. Late presentation complicates the management of RB results in dismal treatment outcome. Objective: The aim of this study is to report the clinical presentation pattern of retinoblastoma patients seen at Jimma University Medical center (JUMC). METHODS: The study was a retrospective review of retinoblastoma cases managed at JUMC between August 2016 and July 2020. RESULTS: Among pediatric oncology cases registered retinoblastoma, accounting 8.5 % (36/423) of all childhood cancer patients in the study period, 29 (90.6%) of them had unilateral retinoblastoma and 3(9.4%) of them had bilateral retinoblastoma. The average age at presentation for bilateral and unilateral retinoblastoma patients was 17 (range 3-30) months and 37.5 months (range 8-84) respectively. The first symptom observed by the family was leukocoria in 21 (65.6%) of the patients but 24(75%) of the patients presented with advanced stage (proptosis and fungating orbital mass) of the disease. The longest and the shortest lag time of presentation from the first symptom was 17 months and 2 weeks respectively with the mean lag time of 1.4 months in bilateral and 6 months in unilateral cases. Clinically, the majority of the eyes 24/35(68.6%) were extraocular tumors involving orbital tissues at presentation. CONCLUSION: Most of retinoblastoma patients presented at advanced stage of the disease and presented very late after the family observed the disease. Early detection strategies must be designed by the government and responsible stakeholders in mitigating the effects of late presentation. [ABSTRACT FROM AUTHOR]

Untreated congenital toxoplasmosis remains an important cause of neurologic and ocular disease worldwide. However, congenitally infected infants may not have signs and symptoms their physicians recognize, leading to delayed diagnosis and missed opportunities for treatment. We describe a pair of twins diagnosed with congenital toxoplasmosis at 11 months of age following incidental detection of leukocoria in one twin. [ABSTRACT FROM AUTHOR]

Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. Observations: A retrospective chart review of the patient's ocular and systemic findings and imaging results was performed. The patient had received genetic testing, including mutational analysis of targeted genes associated with retrolental masses. The patient had a comprehensive eye exam for bilateral leukocoria, demonstrating large retrolental masses, anterior polar cataracts, stretched ciliary processes, and roving eye movements. B-scan ultrasonography and magnetic resonance imaging indicated total, funnel-shaped retinal detachments, which is a unique retinal configuration in Norrie disease. Genetic testing confirmed deletion of the coding region of all three exons in the NDP gene, which confirmed Norrie disease. He has not shown any extraocular involvement to date. Conclusions and Importance: This is a case demonstrating the association between deletion of the coding region NDP gene and Norrie disease. The phenotypical variation of this disease warrants further studies of genotype-phenotype correlations and mutations of the NDP gene.

Retinoblastoma is a rare intraocular malignant tumour more commonly seen in children below five years of age. We presented a rare case of retinoblastoma in a 7 year old child who came to the ophthalmology OPD with complaints of loss of vision in both eye and deviation in right eye. Fundus examination showed multiple floating cotton ball opacities in vitreous cavity. B-scan was suggestive of Group E retinoblastoma in right eye and Group D retinoblastoma in left eye. To conclude, any unexplained visual loss in children of any age should be examined extensively by an ophthalmologist, as the risk of retinoblastoma cannot be ruled out. [ABSTRACT FROM AUTHOR]

We report a case of concomitant choroidal hemangioma in an eye that harbored intraocular retinoblastoma (RB) in a 1-year-old child. A 12-month-old boy presented with right white pupil (Leukocoria). The initial clinical diagnosis was unilateral intraocular RB Group C. The eye was treated initially by systemic chemotherapy combined with focal consolidation therapy followed by I-125 plaque radiotherapy. Massive sub-retinal recurrence was seen 4 months later, and Magnetic Resonance Imaging (MRI) showed extra-scleral invasion of the tumor, and therefore enucleation was performed. Microscopic examination revealed a differentiated retinoblastoma associated at the site of the base of the tumor with choroidal hemangioma with trans-scleral invasion. Orbit MRI was repeated 3 months after the surgery, and there was no orbital tumor recurrence. We are reporting a rare case of pathologically concomitant choroidal hemangioma with trans-scleral invasion in an eye that harbored active recurrent intraocular RB. This trans-scleral extension of hemangioma was misinterpreted by MRI as extraocular retinoblastoma and resulted in enucleation.

Retinoblastoma (RB) is the most common ocular cancer, and it typically presents before the age of 5 years in over 90% of cases. In high resource countries, RB patients tend to survive and retain their sight. This is not the case in low-resource countries because of late presentation and delayed intervention arising mostly from sociocultural and socioeconomic challenges. RB has no gender or racial predilection; the incidence is estimated as 1:16,000–1:18,000 live-births or 11/1 million children under 5 years. Most of the world's RB cases are found in Asia and Africa while most RB treatment centres are in America and Europe. RB is easy to detect by caregivers as a glowing white 'cat eye reflex' at night or when captured on camera. Health workers at primary care level can detect RB in early life if red reflex test and/or squint (Hirschberg) tests are deployed as part of wellness checks done especially during routine immunisation and well-baby clinics in the first 24 months of life. In most cases of RB, biopsies for histological confirmation are not required for diagnosis and treatment decisions to be made. Clinical information, ophthalmic evaluation and imaging modalities are typically used. There have been significant changes in the management of RB using various treatment modalities such as enucleation with orbital implant, use of chemotherapy delivered through intravenous, intravitreal, periocular and intra-arterial routes and targeted treatment with laser, cryotherapy and brachytherapy. Algorithm for management and development of the national RB program within the context of a low-resource country is presented from review of data extracted from Mendeley library, PubMed library, Google Scholar and One Network; full-text articles were mostly retrieved through the American Academy of Ophthalmology.

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. [ABSTRACT FROM AUTHOR]

Retinopathy of prematurity (ROP) and retinoblastoma (RB) are well-described entities in premature babies. Although their pathogeneses are different, with ROP representing a disorder of interrupted development and RB a genetic disease, a few co-occurring cases have been reported, raising the possibility that the 2 conditions. Here, we report the sixth such case of co-occurring ROP and RB in an 8-month-old infant conceived by in vitro fertilization (IVF) who developed bilateral retinoblastoma a few months after treatment for advanced-stage ROP. While the ROP was initially adequately managed, bilateral RB necessitated bilateral enucleation. This case raises a number of important questions about whether IVF, ROP, and RB are causally related. Although the associations between IVF, ROP, and RB are likely to be coincidental, this case nevertheless highlights that ROP patients require regular follow-up for early diagnosis and treatment of ocular sequelae including RB. [ABSTRACT FROM AUTHOR]

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