Persistent fetal vasculature (PFV) is a rare ocular developmental disorder resulting from incomplete apoptosis of the embryonic hyaloid vasculature during the in-utero period. Variability in the development and regression of hyaloid vasculature is responsible for the wide range of clinical presentation of the disorder. PFV may manifest as anterior segment abnormalities (cataract, glaucoma, microphthalmia, elongated ciliary process with central traction, retrolental membrane, and shallow anterior chamber), posterior segment abnormalities (vitreous stalk, preretinal membranes, optic hypoplasia, and retinal folds), or with a combined anteroposterior disease. The most common associated clinical feature is leukocoria with microphthalmia and usually unilateral presentation. Most of the cases have poor visual prognosis and present early in childhood. Association with myopia is a very rare and atypical presentation, especially unilateral cases which may present later in life and have a good visual prognosis. Hereby, we present a case of a 27-year-old young adult male with unilateral atypical myopic posterior PFV with anisometropic amblyopia and good functional vision in the right eye.

UNASSIGNED: The objective of this study was to report the clinicopathologic features of three cases of MYCN-amplified retinoblastoma identified genetically by aqueous humor sampling.
UNASSIGNED: Whole-genome sequencing was performed using isolated cell-free DNA (cfDNA) from aqueous humor of 3 retinoblastoma patients. We analyzed genomic copy number and mutational alterations, histologic and pathologic features, and clinical data.
UNASSIGNED: The most common genetic alteration identified in these three retinoblastoma cases was a focal MYCN amplification on 2p. All tumors showed an early age of diagnosis with a median of 9 months. The tumor histopathologic features included neovascularization and subretinal seeding in case 1, diffuse nature with choroidal and prelaminar optic nerve invasion in case 2, and complete vitreous seeding in case 3. Case 1 expressed RB protein and had no RB1 mutation, case 2 did not express RB protein and had an RB1 mutation, and case 3 did not express RB protein and likely had an epigenetic effect on RB expression.
UNASSIGNED: Our report shows 3 cases of unilateral retinoblastomas diagnosed in patients ranging from 4 months to 18 months old. Genomic analysis from AH cfDNA revealed MYCN amplification with intact RB protein staining in case 1 and lack of RB staining in cases 2 and 3. RB1 mutational analysis in the AH confirmed a pathogenic variant in case 2. Clinical pathology showed features requiring aggressive treatment, specifically enucleation.
UNASSIGNED: MYCN-amplified retinoblastomas demonstrate unique pathogenesis and aggressive behavior, regardless if MYCN is a primary or secondary driver of disease. Genomic analysis from aqueous humor may be useful when deciding to enucleate as opposed to treating conservatively. Focal MYCN amplification on 2p might be relevant for tumor growth in this subset of the retinoblastoma population in terms of targeted therapeutics.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

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.

Inositol 1,4,5-triphosphate receptor type 1 (ITPR1) is an endoplasmic reticulum-bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in ITPR1 are associated with spinocerebellar ataxia (SCA) types 15/16 and 29 and have recently been implicated in a facial microsomia syndrome. In this report, we present a family with three affected individuals found to have a heterozygous missense c.800C > T (predicted p.Thr267Met) who present clinically with a SCA29-like syndrome. All three individuals presented with varying degrees of ataxia, developmental delay, and apparent intellectual disability, as well as craniofacial involvement-an uncommon finding in patients with SCA29. The variant was identified using clinical exome sequencing and validated with Sanger sequencing. It is presumed to be inherited via parental germline mosaicism. We present our findings to provide additional evidence for germline mosaic inheritance of SCA29, as well as to expand the clinical phenotype of the syndrome.

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.
To demonstrate successful surgical management of grade 3B of Coats\' disease in a 2-year-old boy.
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.
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.
https://youtu.be/0obpVTOkKKs.

OBJECTIVE: 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.
CONCLUSIONS: 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.

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).
CONCLUSIONS: 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.

UNASSIGNED: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome.
UNASSIGNED: 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).
UNASSIGNED: 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.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.