Bilateral Acute Proptosis With Papilledema and Sub-retinal Fluid As Initial Manifestations of Acute Lymphoblastic Leukemia in a Child.

A five-year-old boy presented with bilateral acute proptosis, papilledema, and sub-retinal fluid. Notably, choroidal thickening exceeded 600 microns. These ocular findings were the initial manifestations of acute lymphoblastic leukemia.

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.

The PAX6 gene encodes a highly-conserved transcription factor involved in eye development. Heterozygous loss-of-function variants in PAX6 can cause a range of ophthalmic disorders including aniridia. A key molecular diagnostic challenge is that many PAX6 missense changes are presently classified as variants of uncertain significance.

The Royal College of Paediatrics and Child Health Retinopathy of Prematurity Screening Guidelines (2022): a series of treated infants falling outside the updated criteria.

Background/objectives: Screening for retinopathy of prematurity (ROP) is a core healthcare intervention in premature babies to avoid preventable sight loss. A variety of screening criteria are in place globally for this purpose. The Royal College of Paediatrics and Child Health recently updated the United Kingdom ROP screening guidelines (March 2022).

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected.

Validation of the East London Retinopathy of Prematurity algorithm to detect treatment-warranted retinopathy of prematurity: a cohort study.

Aim: To validate the East London Retinopathy of Prematurity algorithm (EL-ROP) in a cohort of infants at risk of developing retinopathy of prematurity (ROP).

Methods: The EL-ROP algorithm was applied retrospectively to routinely collected data from two tertiary neonatal units in England on infants eligible for ROP screening. The EL-ROP recommendation, to screen or not, was compared with the development of treatment-warranted ROP (TW-ROP) for each infant.

Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis.

Purpose: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis.

Methods: Scheimpflug imaging (Pentacam) was performed for 14 patients with cystinosis and 16 age-matched controls. Pentacam data were used for analysis of the corneal densitometry at different zones in the cornea for patients with cystinosis and controls.

Management of Vernal Keratoconjunctivitis in Children in the United Kingdom: A Review of the Literature and Current Best Practice Across Six Large United Kingdom Centers.

Vernal keratoconjunctivitis (VKC) is a form of ocular allergy primarily affecting children. Considered a rare disease in Europe, its prevalence varies by geographic region and is poorly studied in the United Kingdom. There is considerable national variation in the management of VKC within the United Kingdom, risking misdiagnosis and delays to treatment for some children.

Expanding the phenotypic spectrum of pathogenic variants in the PRRT2 gene: bilateral papilledema and abducens nerve palsies secondary to pseudotumor cerebri syndrome.

An 8-year-old girl with known pathogenic variant in the PRRT2 gene causing paroxysmal kinesigenic dyskinesia with infantile convulsions presented with bilateral papilledema and abducens nerve palsy, which was subsequently confirmed to be pseudotumor cerebri syndrome (PTCS). She was treated with acetazolamide and recovered baseline vision, with some residual papilledema. PTCS is not confirmed to be associated with pathogenic variants in the PRRT2 gene; however, this case in conjunction with a previously reported case of PTCS and unilateral abducens nerve palsy in a patient with PRRT2 variants, raises the possibility that PTCS is part of the phenotypic spectrum rather than being a coincidental occurrence.

Macular fibrosis in Coats' disease demonstrated by Optical Coherence Tomography Angiography - new data toward pathophysiology.

Purpose: To analyze if Segmented Swept-Source Optical Coherence Tomography Angiography (SS OCT-A) can provide additional information on morphology and pathophysiology of macular fibrosis in Coats' patients.

Methods: A consecutive case series of three male patients (5, 7 and 15 years old), with Coats' disease-related macular fibrosis (stage 2b-2 patients, 3b-1 patient). SS OCT-A 3×3 mm macular scans of affected eyes were performed.

Corneal Imaging and Densitometry Measurements in Juvenile and Adult Keratoconus Patients to Evaluate Disease Progression and Treatment Effects After Corneal Cross-Linking.

Purpose: In this study densitometry software for the Oculus Pentacam was used to investigate the treatment outcomes of corneal cross linking (CXL) in adult and juvenile keratoconus (KCN) patients. Densitometry measurements were taken before and after treatment and followed up for one year.

Methods: A comparative study was carried out at Manchester Royal Eye Hospital.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Purpose: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs).

Methods: Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK.

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with one or more extra-ocular features undergoing panel-based screening in a clinical setting. One hundred and six participants, tested on a gene panel which contained both isolated and syndromic IRD genes, were retrospectively ascertained from the Manchester Genomic Diagnostics Laboratory database spanning 6 years (2012-2017).

Clinical and genetic variability in children with partial albinism.

Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge. Timely diagnosis through genomic testing can help avert diagnostic odysseys and facilitates accurate genetic counselling and tailored specialist management. Here, we report the clinical and gene panel testing findings in 12 children with presumed ocular albinism.

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13 individuals with Traboulsi syndrome from three families have been reported in the literature.

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series.

Introduction: Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.

Methods: We conducted a retrospective analysis of children with INC seen by ophthalmologists at the Manchester Royal Eye Hospital between 2002 and 2018, to evaluate clinical findings, symptoms and treatment.

Results: Twenty-two children diagnosed with INC from age 0 (prenatally) to 11 years were assessed.

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum.

Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000-200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with corneal crystal deposition and no systemic involvement. Due to the rarity of the condition, diagnosis is often delayed and can have a significant impact on the overall prognosis of the disease.

Diagnostic Performance and Repeatability of a Novel Game-Based Visual Field Test for Children.

Purpose: To demonstrate utility of a game-based test ("Caspar's Castle") for the detection of visual field defects in children.

Methods: A validity and reliability study was carried out at Manchester Royal Eye Hospital Pediatric Ophthalmology Outpatients Department. We recruited 108 children with no eye pathology (aged 4-12 years) and examined a single eye with the Caspar's Castle system using either normal thresholds or thresholds artificially adapted to recreate defects to assess diagnostic utility.

SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY ASSESSMENT OF FELLOW EYES IN COATS DISEASE.

Purpose: To assess foveal and parafoveal vasculature at superficial capillary plexus (SCP), deep capillary plexus, and choriocapillaris using optical coherence tomography angiography in the fellow eyes of patients with Coats disease.

Methods: Observational and prospective case series. Thirteen patients with unilateral Coats and 14 healthy age- and sex-matched controls were consecutively recruited at Manchester Royal Eye Hospital and the Department of Ophthalmology of San Raffaele Hospital.

Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report.

Purpose: To describe perifoveal microvascular changes occurring in X-linked juvenile retinoschisis (XLRS) using swept source optical coherence tomography angiography (SS OCTA).

Patients And Methods: This is a serial case report of three patients. Retrospective data of patients affected by XLRS were collected.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Purpose: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD).

Design: Single-center retrospective case series.

Participants: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016.

Development of a Pediatric Visual Field Test.

Purpose: We describe a pediatric visual field (VF) test based on a computer game where software and hardware combine to provide an enjoyable test experience.

Methods: The test software consists of a platform-based computer game presented to the central VF. A storyline was created around the game as was a structure surrounding the computer monitor to enhance patients' experience.

Normal Threshold Size of Stimuli in Children Using a Game-Based Visual Field Test.

Introduction: The aim of this study was to demonstrate and explore the ability of novel game-based perimetry to establish normal visual field thresholds in children.

Methods: One hundred and eighteen children (aged 8.0 ± 2.