The incidence, clinical features, and management of essential infantile esotropia in the United Kingdom. A British Ophthalmology Surveillance Unit (BOSU) study.

BACKGROUND/OBJECTIVES: A national study was undertaken through the British ophthalmology surveillance unit (BOSU) to determine the incidence, presenting features and management of essential infantile esotropia (EIE) in the UK. METHODS: Data from a prospective national observational study of newly diagnosed EIE presenting to clinicians in the United Kingdom over a 12-month period were collected. Cases with a confirmed diagnosis by a clinician of a constant, non-accommodative esotropia ≥20 prism dioptres (PD), presenting at ≤12 months, with no neurological or ocular abnormalities were identified through BOSU. Follow-up data were collected at 12 months. RESULTS: A total of 57 cases were reported giving an incidence of EIE of 1 in 12,828 live births. The mean age of diagnosis and intervention were 7.05 ± 2.6 months (range 2-12) and 14.7 ± 4.9 months (range 6.5-28.1), respectively. Management was surgical in 59.6%, botulinum toxin alone in 22.8%, and 17.5% were observed. The preoperative angle of esotropia was smaller in the observation group (P = 0.04). The postoperative angle of esotropia was not statistically significant between botulinum toxin or surgery (P = 0.3), although the age of intervention was earlier in the botulinum group (P = 0.007). Early intervention (before 12 months of age) did not influence the post-intervention motor outcomes between 0 and 10 prism dioptres of esotropia (P = 0.78). CONCLUSIONS: The incidence of EIE in the UK is considerably lower than reported in other population-based studies. The preferred method of treatment was surgical with earlier intervention in those treated with botulinum toxin. An early age of intervention (<12 months) did not influence motor outcomes.

Prevalence of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in suspected papilloedema in children.

PURPOSE: Suspected papilloedema is a frequent cause of referral to paediatric ophthalmology clinics. Recent publications have described a new finding called peripapillary hyperreflective ovoid mass-like structures (PHOMS) that may cause pseudopapilloedema. We evaluated the optical coherence tomography (OCT) scans of the optic nerve in all children referred with suspected papilloedema for the presence of PHOMS and report their frequency. METHODS: The optic nerve OCT scans from children seen in our suspected papilloedema virtual clinic between August 2016 and March 2021 were evaluated for the presence of PHOMS by three assessors. A Fleiss' kappa statistic was calculated to test the agreement between the assessors for the presence of PHOMS. RESULTS: A total of 220 scans from 110 patients were evaluated during the study period. The mean patient age was 11.2 SD ± 3.4, (range 4.1-16.8). PHOMS were identified in at least one eye in 74 (67.3%) patients. Of these, 42 (56.8%) patients had bilateral and 32 (43.2%) had unilateral PHOMS. Excellent agreement between assessors for the presence of PHOMS (Fleiss' kappa 0.9865) was observed. PHOMS were common in association with other identified causes of pseudopapilloedema (81.25%) but were also common in papilloedema (66.67%) and otherwise normal discs (55.36%). CONCLUSIONS: Misdiagnosis of papilloedema can lead to unnecessary and invasive tests. PHOMS are found frequently within the paediatric population referred for suspected disc swelling. They appear to be an independent cause of pseudopapilloedema but are often seen in conjunction with true papilloedema and other causes of pseudopapilloedema.

The use of occlusive contact lenses after failure of conventional for treatment of amblyopia.

PURPOSE: The purpose of this study was to evaluate the usefulness and assess the risks associated with occlusive contact lenses (OCLs) use to treat refractory amblyopia in children who failed the conventional amblyopia treatment with patching and atropine penalization. METHODS: This was a retrospective case series of all children treated with an OCL in the sound eye over an 8-year period. Data were collected on the age, gender, and type of amblyopia, previous treatment received, and its duration. The compliance, tolerance, and adverse effects of OCL were recorded. RESULTS: There were 12 patients of which 10 were male. The mean age at the time of OCL use was 47.3 months (range 26-86 months). Anisometropic amblyopia was present in 1, combined anisometropia and strabismus in 3, strabismic amblyopia in 5, and stimulus deprivation amblyopia in 3. All patients had conventional patching for a mean period of 14 months, followed by atropine penalization in nine patients for a mean period of 4 months. The mean duration of OCL use ranged from 2 weeks to 6 months. There were nine patients with visual improvement (75%). The mean improvement seen was 0.4 log of the minimum angle of resolution. There was no occlusion amblyopia. Four patients had conjunctivitis; one had a peripheral corneal abrasion. CONCLUSION: The OCL is a useful adjunct in the treatment of amblyopia that is refractory to conventional treatment. The side effect profile is acceptable, but patients require close monitoring.

Stress and cataract surgery: A nationwide study evaluating surgeon burnout.

BACKGROUND: We aimed to evaluate the nationwide prevalence of stress induced burnout among cataract surgeons. We believe that knowledge of these factors can help formulate a solution to this underreported problem. METHODS: A three-part nationwide cross-sectional survey was disseminated with via the Royal College of Ophthalmologists (RCOphth) in the United Kingdom(UK). All consultants, trainees and specialty doctors and associate specialists(SAS) were invited to participate. We evaluated burnout using the Maslach Burnout Inventory (MBI). Logistic regression modelling was completed to look at factors linked to high level burnout in certain domains. RESULTS: A total of 406 respondents completed our survey. Prevalence of cataract surgery-related high burnout was estimated at 3.45% (Section A and/or B) and 40% within Personal Accomplishment (PA)(Section C of the MBI). Multiple factors were associated with increased burnout within PA: Increasing age: 61+ OR: 2.99 (1.02-8.78, p = 0.05), Number of cataract operations completed: >3000 OR 2.98 (1.03-8.64, p = 0.04), Lists per week: 2: OR 2.99 (1.38-6.47, p < 0.01), 2.5: OR 8.95 (2.58-31.02, p < 0.01), 3 or more: OR 2.64 (1.07-6.54, p = 0.04). Sleeping 8 h or more was found to be protective OR 0.52 (0.28-0.96, p = 0.04). 17% of respondents indicated they would be willing to give up cataract surgery if given the opportunity. CONCLUSION: The prevalence of stress induced burnout by cataract surgery appears to be present in a minority of surgeons. There appears to be a significant reduction in the feeling of personal achievement within the profession. A large proportion of this cohort appears to be willing to give up surgical responsibilities.

Risk factors for having diabetic retinopathy at first screening in persons with type 1 diabetes diagnosed under 18 years of age.

OBJECTIVE: To determine the risk factors for having diabetic retinopathy (DR) in children and young people (CYP) with type 1 diabetes (T1DM) at first screening. METHODS: Records from the Diabetes Eye Screening Wales (DESW) service for people in Wales, UK, with T1DM diagnosed under age 18 years were combined with other electronic health record (EHR) data in the Secure Anonymised Information Linkage (SAIL) Databank. Data close to the screening date were collected, and risk factors derived from multivariate, multinomial logistic regression modelling. RESULTS: Data from 4172 persons, with median (lower quartile, upper quartile) age 16.3 (13.0, 22.3) years and duration of diabetes 6.6 (2.3, 12.3) years were analysed. 62.6% (n = 2613) had no DR, 26.7% (n = 1112) background DR, and 10.7% (n = 447) had referable DR (RDR). No RDR was observed under 19 years of age. Factors associated with an increased risk of DR were diabetes duration, elevated HbA1c, and diastolic blood pressure. People diagnosed with T1DM at 12 years or older had an additional risk for each year they had diabetes compared to those diagnosed before age 12 controlling for the diabetes duration (odds ratios 1.23 and 1.34, respectively). CONCLUSIONS: This study found that 37.4% of the study cohort had DR at first screening, the risk being greater the longer the duration of diabetes or higher the HbA1c and diastolic blood pressure. In addition, people diagnosed at 12 years of age or over were more likely to have DR with each additional year with diabetes.

Genotype-phenotype correlation at codon 1740 of SETD2.

The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal functions. Specifically, SETD2 is associated with trimethylation of histone H3 at lysine 36 (H3K36me3) and methylation of α-tubulin at lysine 40. Heterozygous loss of function and missense variants have previously been described with Luscan-Lumish syndrome (LLS), which is characterized by overgrowth, neurodevelopmental features, and absence of overt congenital anomalies. We have identified 15 individuals with de novo variants in codon 1740 of SETD2 whose features differ from those with LLS. Group 1 consists of 12 individuals with heterozygous variant c.5218C>T p.(Arg1740Trp) and Group 2 consists of 3 individuals with heterozygous variant c.5219G>A p.(Arg1740Gln). The phenotype of Group 1 includes microcephaly, profound intellectual disability, congenital anomalies affecting several organ systems, and similar facial features. Individuals in Group 2 had moderate to severe intellectual disability, low normal head circumference, and absence of additional major congenital anomalies. While LLS is likely due to loss of function of SETD2, the clinical features seen in individuals with variants affecting codon 1740 are more severe suggesting an alternative mechanism, such as gain of function, effects on epigenetic regulation, or posttranslational modification of the cytoskeleton. Our report is a prime example of different mutations in the same gene causing diverging phenotypes and the features observed in Group 1 suggest a new clinically recognizable syndrome uniquely associated with the heterozygous variant c.5218C>T p.(Arg1740Trp) in SETD2.

Is the severity of refractive error dependent on the quantity and extent of retinal laser ablation for retinopathy of prematurity?

BACKGROUND/AIM: To test the hypothesis severity of acquired refractive error in Retinopathy of Prematurity (ROP) is dependent on the quantity of laser treatment delivered. METHODS: Two groups (treated and untreated infants) were age and weight matched. Data on the number of laser burns and Retcam II retinal images were analysed using computer aided design software to determine the proportion of area treated. Data were collected until the age of 6 years. RESULTS: The study comprises 43 infants (86 eyes). Twenty-one infants (42 eyes) in the treated group, mean gestational age (GA) was 26.40 (±2.5) weeks versus 27.30 (±1.7) weeks in the matched untreated group (P = 0.650). Birth weight (BW) in the treated group was 812 g (±86) and 804 g (±135) (P = 0.185) in the untreated group. Mean refractive error at 72 months was -2.23 (±4.06) in the treated group and +2.04 (±0.90) in the untreated group (P < 0.005). At 72 months 50% of treated eyes were myopic versus 19% of controls (P = 0.013). Mean laser burns applied were 1855 (±659), mean proportion of retina treated 45% (±10). Myopic eyes had a mean treatment area of 49% (±13) versus 43% (±10) hypermetropia and 42% (±5) emmetropia (P = 0.030). A larger treatment area was associated with a higher degree of myopia and anisometropia at 72 months (P < 0.050). These associations were not found for hypermetropia. CONCLUSIONS: The extent of myopia after retinal laser ablation for ROP is higher if a greater number of laser burns or a larger proportion of the retina is treated.

Heterochromia irides and mistaken identity of retinoblastoma.

Retinoblastoma is the most common intraocular malignancy of infancy which frequently manifests with a white pupillary reflex. We report a case of delayed presentation of a child with retinoblastoma in his left eye because parents thought the change in iris colour in this eye was due to the innocent heterochromia irides that was previously diagnosed in his elder sibling. This late presentation necessitated enucleation of the affected eye followed by chemotherapy.

Fresh frozen plasma (Octaplas) and topical heparin in the management of ligneous conjunctivitis.

Ligneous conjunctivitis is a rare form of chronic recurrent membranous conjunctivitis with reduced plasminogen activity. It is characterized by the formation of characteristic firm ("woody") membranes on the tarsal conjunctiva. Similar lesions may occur on other mucous membranes. When treated with local excision, ligneous conjunctivitis is invariably associated with recurrences. Various therapeutic modalities, including topical heparin, cyclosporine, fresh frozen plasma (FFP), plasminogen, and amniotic membrane transplantation have been reported to reduce postoperative recurrences. We present 2 cases of recurrent ligneous conjunctivitis in children successfully managed with surgical excision under cover of FFP transfusion, amniotic membrane grafting, and combined with concomitant postoperative administration of topical heparin, steroids.

Abusive head trauma and the triad: a critique on behalf of RCPCH of 'Traumatic shaking: the role of the triad in medical investigations of suspected traumatic shaking'.

The Swedish Agency for Health Technology Assessment and Assessment of Social Services (SBU) has recently published what they purported to be a systematic review of the literature on 'isolated traumatic shaking' in infants, concluding that 'there is limited evidence that the so-called triad (encephalopathy, subdural haemorrhage, retinal haemorrhage) and therefore its components can be associated with traumatic shaking'. This flawed report, from a national body, demands a robust response. The conclusions of the original report have the potential to undermine medico-legal practice. We have conducted a critique of the methodology used in the SBU review and have found it to be flawed, to the extent that children's lives may be put at risk. Thus, we call on this review to be withdrawn or to be subjected to international scrutiny.

Altered ratios of pro- and anti-angiogenic VEGF-A variants and pericyte expression of DLL4 disrupt vascular maturation in infantile haemangioma.

Infantile haemangioma (IH), the most common neoplasm in infants, is a slowly resolving vascular tumour. Vascular endothelial growth factor A (VEGF-A), which consists of both the pro- and anti-angiogenic variants, contributes to the pathogenesis of IH. However, the roles of different VEGF-A variants in IH progression and its spontaneous involution is unknown. Using patient-derived cells and surgical specimens, we showed that the relative level of VEGF-A165 b was increased in the involuting phase of IH and the relative change in VEGF-A isoforms may be dependent on endothelial differentiation of IH stem cells. VEGFR signalling regulated IH cell functions and VEGF-A165 b inhibited cell proliferation and the angiogenic potential of IH endothelial cells in vitro and in vivo. The inhibition of angiogenesis by VEGF-A165 b was associated with the extent of VEGF receptor 2 (VEGFR2) activation and degradation and Delta-like ligand 4 (DLL4) expression. These results indicate that VEGF-A variants can be regulated by cell differentiation and are involved in IH progression. We also demonstrated that DLL4 expression was not exclusive to the endothelium in IH but was also present in pericytes, where the expression of VEGFR2 is absent, suggesting that pericyte-derived DLL4 may prevent sprouting during involution, independently of VEGFR2. Angiogenesis in IH therefore appears to be controlled by DLL4 within the endothelium in a VEGF-A isoform-dependent manner, and in perivascular cells in a VEGF-independent manner. The contribution of VEGF-A isoforms to disease progression also indicates that IH may be associated with altered splicing. © 2016 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.

Congenital glaucoma in Wagner syndrome.

Wagner syndrome is a rare inherited vitreoretinopathy. We describe 3 related patients with Wagner syndrome who presented with congenital glaucoma at age 3 months and required multiple surgical interventions to control their intraocular pressure. All experienced visual loss and glaucomatous optic neuropathy.

Newborn retinal hemorrhages: a systematic review.

PURPOSE: To systematically review the characteristics, prevalence, evolution, and obstetric associations of retinal hemorrhages (RH) in newborns. METHODS: A systematic review, searching 10 databases (1970-2011), identified 45 studies, which underwent two independent reviews via the use of standardized critical appraisal. Studies meeting the following criteria were included: examination by an ophthalmologist, use indirect ophthalmoscopy, and first examination conducted within 96 hours of birth and before hospital discharge. RESULTS: Thirteen studies were included, representing 1,777 infants. The studies revealed that 25.6% of newborns born via spontaneous vaginal deliveries had RH. In contrast, infants delivered by vacuum extraction had a 42.6% rate of RH (OR, 2.75; 95% CI, 1.32-5.70), and infants delivered by double-instrument deliveries (forceps and vacuum) had a 52% rate of RH (OR, 3.27; 95% CI, 1.68-6.36). The hemorrhages are commonly bilateral (59%), of varying severity, from "mild" (22%-56%) to "severe" (18%-37%), and predominantly intraretinal and in the posterior pole. The majority of RH (83%) resolved within 10 days; isolated cases persisted to 58 days. CONCLUSIONS: Birth-related RH in infants occurs in one-quarter of normal deliveries and are far more common after instrumental deliveries. Commonly bilateral, they were predominantly intraretinal, posterior, resolved rapidly, and very rarely persisted beyond 6 weeks.

Development and validation of a standardized tool for reporting retinal findings in abusive head trauma.

PURPOSE: To develop and validate a robust standardized reporting tool for describing retinal findings in children examined for suspected abusive head trauma. DESIGN: A prospective interobserver and intraobserver agreement study. METHOD: An evidence-based assessment pro forma was developed, recording hemorrhages (location, layer, severity) and additional features. Eight consultant pediatric ophthalmologists and 7 ophthalmology residents assessed a series of 105 high-quality RetCam images of 21 eyes from abusive head trauma cases with varying degrees of retinal hemorrhage and associated findings. The pediatric ophthalmologists performed a repeat assessment of the randomized images. The images were observed simultaneously with standardized display settings. Interobserver and intraobserver agreement was assessed using free-marginal multirater kappa, intraclass correlation coefficients, and concordance coefficients. RESULTS: Almost-perfect interobserver agreement was observed for residents and pediatric ophthalmologists recording the presence and number of fundus hemorrhages (intraclass correlation coefficients 0.91 and 0.87, respectively) and the location of hemorrhages (concordance coefficients 0.86 and 0.85, respectively). Substantial agreement was observed by both groups regarding size of hemorrhage (concordance coefficients 0.73 and 0.76), moderate agreement for hemorrhage morphology (concordance coefficients 0.53 and 0.52), and other findings (concordance coefficients 0.48 and 0.59). Intraobserver agreement for pediatric ophthalmologists varied by question, ranging from substantial to perfect for the presence, number, location, size, and morphology of fundus hemorrhage. CONCLUSION: We have developed and validated a standardized clinical reporting tool for ophthalmic findings in suspected abusive head trauma, which has excellent interobserver and intraobserver agreement among consultant specialists and residents. We suggest that its use will improve standardized clinical reporting of such cases.

Validity and ease of use of a computerized Hess chart.

PURPOSE: To investigate agreement between computerized and conventional methods for obtaining Hess charts and to compare relative ease of use of both methods. METHODS: Hess charts of 65 patients were obtained by the use of the computerized Assaf Ocular Motility Analyzer (OMA) and the conventional Lees screen method. The Hess charts produced by each method were compared with a previously described scoring system. Patients compared the ease of testing by using a 5-point Likert scale. RESULTS: For horizontal deviations of the right eye, the OMA provided a significantly larger (P = 0.0001) deviation (301° ± 267°) than the Lees screen (204° ± 306°). The Lees screen gave a significantly larger score for vertical deviations of the left eye (117° ± 158° vs 96° ± 129°; P = 0.003). Vertical deviations of the right eye and horizontal deviations of the left eye did not differ significantly between tests. Patients required the same amount of time to complete both tests, but the OMA was slightly easier to perform than the Lees screen (Likert score, 1.2 ± 0.5 vs 1.3 ± 0.4; P = 0.046). CONCLUSIONS: The scores measured were larger with OMA in the horizontal and smaller in the vertical direction than with the Lees screen in some directions. Although the OMA did not save time, patients found it easier to perform than the Lees screen. The OMA may be considered a useful alternative to the Lees screen.

A survey of the management of globe perforation during strabismus surgery in the United Kingdom.

INTRODUCTION: Globe perforation is a potentially devastating complication of strabismus surgery. The purpose of this study is to investigate the management of suspected globe perforation encountered during strabismus surgery in the United Kingdom. METHODS: A postal survey of all consultant ophthalmologists in the United Kingdom was undertaken. The questionnaire solicited data on the management and outcomes of globe perforation encountered during strabismus surgery. RESULTS: Five hundred and seventeen of 850 (60.8%) surgeons responded to the survey. Of these, 240 (46.4%) performed strabismus surgery, of whom 58.8% performed fewer than 50, 32.1% performed 50 to 100, and 8.3% performed more than 100 surgical procedures annually. Ninety-eight (40.8%) had suspected globe perforation during strabismus surgery, of whom 86 subsequently carried out dilated fundoscopy. There were 74 reported globe perforations. Fifty-four detailed treatment with cryopexy (50%), retinal laser (31.5%), both (9.3%), cautery (1.9%), and not reported (7.4%). In 27% of cases surgeons chose not to treat the perforation observed postoperatively. Thirty-five respondents prescribed additional antibiotics. Visual loss occurred in 6 cases, with 2 cases of endophthalmitis, 2 retinal detachments, 1 suprachoroidal hemorrhage, and 1 from a chorioretinal scar. DISCUSSION: Complications leading to visual loss were infrequent. Of the surgeons reporting globe perforations, approximately three quarters chose to treat the injury and one quarter chose to observe without treatment. Cryotherapy was the most popular intervention. Further prospective study is required to elucidate optimal management strategies.