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.

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.

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.

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.

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.