A case of retinoblastoma masquerading as endophthalmitis: Unusual presentation and clinicopathological correlation.

Introduction: Retinoblastoma is a serious childhood intraocular neoplasm that can be diagnosed clinically with the aid of B-scan ultrasound, and radiological examination. On the other hand, the differential diagnosis includes benign and other masquerading conditions such as uveitis and endophthalmitis thus adding challenge to the proper diagnosis.

Presentation Of Case: A six-year-old girl presented with leukocoria and decreased vision of the right eye.

A Novel Technique Using Paretic Superior Rectus as a Globe Suspender for Monocular Elevation Deficiency.

Surgical innovations in strabismus provide opportunities to improve visual function, eye alignment, and cosmesis in rare pediatric ophthalmological conditions. Monocular elevation deficiency is a rare and multifactorial disease in which the affected eye is equally limited in terms of elevation during adduction and abduction. We aimed to present a novel procedure for the treatment of acquired monocular elevation deficiency using the paretic superior rectus muscle as a globe suspender to resolve hypotropia.

State of the Art of Pharmacological Activators of p53 in Ocular Malignancies.

The pivotal role of p53 in the regulation of a vast array of cellular functions has been the subject of extensive research. The biological activity of p53 is not strictly limited to cell cycle arrest but also includes the regulation of homeostasis, DNA repair, apoptosis, and senescence. Thus, mutations in the p53 gene with loss of function represent one of the major mechanisms for cancer development.

MDM2 inhibitors-mediated disruption of mitochondrial metabolism: A novel therapeutic strategy for retinoblastoma.

MDM2 is the principal inhibitor of p53, and MDM2 inhibitors can disrupt the physical interaction between MDM2 and p53. The half-life of p53 is very short in normal cells and tissues, and an uncontrolled increase in p53 levels has potential harmful effects. It has been shown that p53 is frequently mutated in most cancers; however, p53 mutations are rare in retinoblastoma.

Clinicopathological Correlations in Enucleated Globes of Late-Stage Coats Disease with a Review of the Literature.

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.

Trends in antibiotic resistance in ocular samples in a tertiary eye centre in Saudi Arabia in 2003-2019.

Objective: The aim of this study was to analyze the antibiotic resistance in ocular samples over a 16-year period.

Methods: This was a retrospective cohort study conducted at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia (2003-2019). The study included corneal and conjunctival swabs and aqueous and vitreous samples.

Endophthalmitis Post Pars Plana Vitrectomy Surgery: Incidence, Organisms' Profile, and Management Outcome in a Tertiary Eye Hospital in Saudi Arabia.

Purpose: To determine the incidence of endophthalmitis after pars plana vitrectomy (PPV), organisms' profile, and management outcomes at a tertiary eye hospital in a Middle East country.

Methods: In this single-arm cohort study conducted in 2020, medical records of patients who underwent PPV not accompanied by any other intraocular surgery were reviewed; those with a diagnosis of acute endophthalmitis in the immediate postoperative period (within 6 weeks) during the past 6 years were analyzed.

Results: A total of 8153 records of PPV surgeries were reviewed.

Adult presentation of retinoblastoma in Saudi patient.

To describe an unusual case of retinoblastoma in adult Saudi. A 21-year-old Saudi male developed acute unilateral visual loss due to a large intraocular lesion in his left eye. Within five days of presentation, the tumor enlarged rapidly causing angle closure glaucoma and orbital cellulitis like picture.

Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.

Congenital cranial dysinnervation disorders are phenotypes of incomitant strabismus and/or ptosis. Recessive mutations in COL25A1 are a recently reported cause, but the associated ophthalmic phenotypes have not been detailed. We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence.

MicroRNA profiling in intraocular medulloepitheliomas.

Purpose: To study the differential expression of microRNA (miRNA) profiles between intraocular medulloepithelioma (ME) and normal control tissue (CT).

Material And Methods: Total RNA was extracted from formalin fixed paraffin embedded (FFPE) intraocular ME (n=7) and from age matched ciliary body controls (n=8). The clinical history and phenotype was recorded.

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

Background: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study. The phenotype is typically autosomal recessive and is genetically heterogeneous. Although LCA is defined by a non-recordable electroretinogram (ERG) during infancy, many LCA studies include infants with low ERG readings and/or older children not phenotyped during infancy.

Ocular malignant tumors. Review of the Tumor Registry at a tertiary eye hospital in central Saudi Arabia.

Objective: To present the epidemiologic profile and magnitude of ocular malignant tumors (MT) representative of the Saudi population from the Tumor Registry (TR) at King Khaled Eye Specialist Hospital (KKESH).

Methods: This study evaluated the demographic information, clinical features including tumor laterality, ocular tissue of origin, and diagnosis of patients from the TR registry between 1983 and 2012 at KKESH, Riyadh, Kingdom of Saudi Arabia. The incidence of MT among Saudi adults (>/= 15 years old), and children (<15 years old) was estimated.

The distinct ophthalmic phenotype of Knobloch syndrome in children.

Background: Knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined. This report characterises eye findings of the syndrome in children with genetically confirmed disease.

Methods: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18.

Medulloepithelioma of the ciliary body: the delay in diagnosis and frequent initial mismanagement.

Objective: Medulloepithelioma is a rare intraocular embryonal neuroepithelial tumour. The study aims at identifying the causes for the delay in diagnosis and treatment.

Design: A retrospective study of all cases with histopathologic diagnosis of medulloepithelioma over a period of 25 years.

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

Background: Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date.

Objective: To identify a novel genetic cause of KS in a cohort of Saudi KS patients enrolled in this study.

Histopathologic findings of eyes enucleated after treatment with chemosurgery for retinoblastoma.

Introduction: Intra-arterial chemotherapy (chemosurgery) for the treatment of retinoblastoma has been performed more than 1600 times (more than 1400 times in Japan and 200 times in New York) over the past 20 years.Despite this treatment's success some eyes cannot be saved and require enucleation. Here we report the histopathologic findings of the remaining intraocular tumor of eyes that were enucleated following treatment that included chemosurgery in New York City.

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

Purpose: To assess for gammaD-crystallin (CRYGD) mutation in 2 Saudi patients with cerulean cataract and in a brother of one of the patients who had coralliform cataract.

Methods: Patients and all of their available relatives underwent ophthalmic examination and subsequent sequencing of the candidate gene CRYGD.

Results: In the first family, a 4-year-old boy with bilateral cerulean cataract and his 6-year-old brother with similar bluish lens discoloration but in a coralliform pattern were heterozygous for the p.

Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.

Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).(1,2) To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) growth retardation.(1,3) Nanophthalmos and corneal opacity have been documented in Kenny-Caffey syndrome patients,(4) but ocular disease has not been well-described in HRD.

Lack of efficacy of dilated screening for retinoblastoma.

Purpose: To assess red reflex testing of the pharmacologically dilated pupil in screening for retinoblastoma.

Patients And Methods: Children with a family history of retinoblastoma or a history of treated retinoblastoma who were admitted to our institution for examination using anesthesia during a 3-month period underwent red reflex testing of the pharmacologically dilated pupil in a masked fashion. Red reflexes were classified as normal (unremarkable), abnormal (in brightness or color), or absent (no reflex, black pupil).

Results of surgery for bilateral cataract associated with sensory nystagmus in children.

Purpose: To report the outcome of cataract surgery in children with bilateral cataract and preoperative sensory nystagmus.

Design: Interventional case series.

Methods: Retrospective review of 95 children who underwent surgery for bilateral cataract associated with sensory nystagmus.