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.

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: 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.

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.

Cataract is the leading cause of childhood blindness in developing countries. Early detection and treatment of childhood cataracts can reduce the burden of blindness in the nation. Often the etiology of pediatric cataract is idiopathic; however, genetics play a role in the development of congenital cataract. According to epidemiologists, one-fourth of cases of congenital cataracts are hereditary. Gene responsible for the development of cataract is identified using gene mapping, which helps to prevent future blindness in the family. Cataracts can also present with systemic disease, microphthalmia, microcornea, and aniridia. The presentation of cataracts varies in individuals, some are symptomatic while others are asymptomatic. Parents after noticing strabismus and leukocoria bring their children to an ophthalmologist. Early diagnosis can restore visual function in cases of congenital cataract. In young babies, the type of cataract is determined using slit-lamp examination and examination under anesthesia in OR. Most cases of pediatric cataracts are accidental findings during routine checkups. On direct ophthalmoscopy, red reflex is not appreciated in cases of cataracts. Advancing technology changes the ophthalmologist\'s approach to pediatric cataract surgery, improving postoperative refractory function. In children, minor incision surgery was preferred to heal early. An appropriate choice of intraocular lens (IOL) should be made for implantation in a child\'s eye to avoid postimplanted complications. Inflammation and amblyopia affect the outcome of treatment. Complications of cataract surgery include posterior capsule opacification, glaucoma, inflammation, and uveitis.

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.
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.
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.
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.

Retinoblastoma (RB) is the most common intraocular primary malignancy for infants and young children. The tumor is bilateral in 40% of cases and unilateral in 60% of cases. The hereditary form is due to a germinal mutation in the RB1 tumor suppressor gene. In developed countries, patients treated for RB have excellent survival, but unfortunately in developing countries delays in diagnosis and lack of human and financial resources are responsible for deaths. We conducted a retrospective study of 144 cases of RB in order to evaluate the clinico-pathological aspect of RB for the national reference center of RB in Morocco. Our study highlighted the indispensable collaboration between the clinician and the pathologist. Besides the diagnostic confirmation, the anatomopathological study gives us information on histopronostic risk factors to guide the treatment.