Visits to the Pediatric Emergency Department for Eye Conditions Before and During the COVID-19 Pandemic.

INTRODUCTION: The use of the emergency department (ED) has been increasing, and many visits occur for non-urgent conditions. A similar trend was found among adult visits to the ED for ocular conditions. In this study we analyzed the impact of sociodemographic factors, presentation timing, and the COVID-19 pandemic on pediatric ED (PED) encounters for ophthalmologic conditions. It is important to identify the multifold factors associated with overutilization of the ED for non-urgent conditions. Caring for these patients in an outpatient clinical setting is safe and effective and could decrease ED crowding; it would also prevent delays in the care of other patients with more urgent medical problems and lower healthcare costs. METHODS: We retrospectively reviewed electronic health records of PED ocular-related encounters at two children's hospitals before (January 2014-May 2018) and during the COVID-19 pandemic (March 2020-February 2021). Encounters were categorized based on the International Classification of Diseases codes into "emergent," "urgent," and non-urgent" groups. We analyzed associations between sociodemographic factors and degrees of visit urgency. We also compared visit frequencies, degrees of urgency, and diagnoses between pre-pandemic and pandemic data. RESULTS: Pre-pandemic ocular-related PED encounters averaged 1,738 per year. There were highly significant sociodemographic associations with degrees of urgency in PED utilization. During the 12-month pandemic timeframe, encounter frequency contracted to 183. Emergent visits decreased from 21% to 11%, while the proportions of urgent and non-urgent encounters were mostly unchanged. The most common pre-pandemic urgent diagnosis was corneal abrasion (50%), while visual disturbance was most common during the pandemic (92%). During both time periods, eye trauma was the most frequent emergent encounter and conjunctivitis was the most common non-urgent encounter. CONCLUSION: Sociodemographic factors may be associated with different types of PED utilization for ocular conditions. Unnecessary visits constitute major inefficiency from a healthcare-systems standpoint. The marked decrease in PED utilization and differing proportions of ocular conditions encountered during the pandemic may reflect a decrease in incidence of many of those conditions by social distancing; these changes may also reflect altered parental decisions about seeking care.

Comparison of OCT imaging in children with foveal hypoplasia born full term versus preterm.

PURPOSE: It is unknown if foveal hypoplasia in full-term born children differs in structure and function from that observed in children born preterm. We compared macular structure and visual function in children with history of prematurity and full-term children diagnosed with foveal hypoplasia. METHODS: We compared three groups of subjects (3-18 years old): (1) full-term hypoplasia (FH, n = 56, gestational age ≥ 36 weeks); (2) preterm hypoplasia (n = 57, gestational age ≤ 31 weeks, birth weight ≤ 1500 g); (3) control (n = 54), full-term normal. Using spectral-domain optical coherence tomography volume-scan images, macular structure within 3 mm of Early-Treatment-Diabetic-Retinopathy-Study circle was segmented. Total, inner, and outer foveal thickness of right eyes were compared. Foveal hypoplasia was graded according to the Leicester Grading System. RESULTS: The mean total foveal thickness in micrometers was 263 ± 19 for the control, 299 ± 30 for the full-term hypoplasia, and 294 ± 28 for the preterm hypoplasia groups (F = 33, p < 0.001). Foveal inner retinal layer thickness differed among groups (p < 0.001), but not in the outer layers (p = 0.10). The full-term hypoplasia group had significantly thicker foveal inner layers (p < 0.05) and greater frequency of higher-grade hypoplasia than the preterm hypoplasia group. LogMAR visual acuity was worse in the full-term hypoplasia group (0.35 ± 0.36) than in the preterm hypoplasia group (0.19 ± 0.27, p < 0.001). CONCLUSION: Fovea was thicker in both hypoplasia groups. The full-term hypoplasia group is associated with more severe structure changes and poorer visual function than the preterm hypoplasia group.

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.

BACKGROUND: Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the lack of prospective studies, consensus recommendations for management and treatment of SWS have not been published. OBJECTIVE: This article consolidates the current literature with expert opinion to make recommendations to guide the neuroimaging evaluation and the management of the neurological and ophthalmologic features of SWS. METHODS: Thirteen national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included (1) risk stratification, (2) indications for referral, and (3) optimum treatment strategies. An extensive PubMed search was performed of English language articles published in 2008 to 2018, as well as recent studies identified by the expert panel. The panel made clinical practice recommendations. CONCLUSIONS: Children with a high-risk facial port-wine birthmark (PWB) should be referred to a pediatric neurologist and a pediatric ophthalmologist for baseline evaluation and periodic follow-up. In newborns and infants with a high-risk PWB and no history of seizures or neurological symptoms, routine screening for brain involvement is not recommended, but brain imaging can be performed in select cases. Routine follow-up neuroimaging is not recommended in children with SWS and stable neurocognitive symptoms. The treatment of ophthalmologic complications, such as glaucoma, differs based on the age and clinical presentation of the patient. These recommendations will help facilitate coordinated care for patients with SWS and may improve patient outcomes.

Effect of gestational age at birth, sex, and race on foveal structure in children.

PURPOSE: Premature birth, race, and sex are contributing risk factors for retinopathy of prematurity (ROP) and have long-term impact on children's retinal structure. Few studies investigate impact of race and sex on macular structure in children born preterm. This study compared foveal structure in preterm and full-term children. METHODS: Children aged 4-18 years were enrolled into three groups: (1) ROP-risk group (n = 81), born at < 32 weeks gestational age with and without history of ROP; (2) preterm group (n = 46), born at 32-36 weeks gestational age; and (3) control group (n = 68) with full-term birth. Using spectral-domain optical coherence tomography volume-scan images, foveal structure within 1-mm and 3-mm early treatment diabetic retinopathy study circular grid was measured and segmented. Total inner and outer retina thickness of the right eye was compared among the three groups. RESULTS: The mean total foveal thickness (in microns) was 287 ± 26 for the ROP-risk group, 276 ± 19 for the preterm group, and 263 ± 20 for the control group (F = 26, p < 0.001). Foveal thickness of the ROP-risk group was significantly higher than that of the preterm group and the control group (all p < 0.05). Foveal thickness was thinner in black children than in white children and thinner in females than in males (all p < 0.001). A similar disparity in race and sex was found in the thickness of the inner and outer layers. CONCLUSIONS: The fovea was significantly thicker in the ROP-risk group than the control group. Foveal thickness decreases with increased gestational age. Race and sex are significant factors in foveal structure in children.

Using OCT Fixation Shift to Assess Eccentric Fixation in Children With Residual Amblyopia.

Purpose: Eccentric fixation in amblyopia is often estimated grossly without precision. Although the usefulness of optical coherence tomography (OCT) fixation shift in the quantification of eccentric fixation in a small cohort of amblyopic children was recently reported, there is a lack of understanding of characteristics of OCT fixation shift. In a retrospective cohort study, we evaluated eccentric fixation with OCT in a large cohort of children with residual amblyopia. Methods: Children, age 4 to 17 years, with residual amblyopia (amblyopic, n = 56) and without amblyopia (control, n = 75) were enrolled. Amblyopia was associated with anisometropia alone (anisometropia subtype, n = 28) and strabismus without or with anisometropia (strabismic subtype, n = 28). Spectral domain OCT was used to estimate fixation. The OCT fixation shift, defined as the distance between the fovea and the fixation point, was measured and adjusted with calculated axial length and converted into visual degrees. Fixation shift in amblyopic eyes, fellow nonamblyopic eyes, and right eyes of the control group were compared. Fixation shift between the anisometropic and strabismic amblyopia subtypes was also compared. Its correlation with visual acuity was estimated. Results: The mean fixation shift was significantly different: 0.17° ± 0.29° for control right eyes, 0.94° ± 1.24° for amblyopic eyes, and 0.34° ± 0.57° for fellow eyes (χ2 = 23.3; P < 0.001). There was no significant difference between fellow eyes and control eyes (P = 0.11). Fixation shift in amblyopic eyes was significantly correlated with visual acuity (R = 0.44; P < 0.001), and it was significantly smaller in the anisometropic subtype than in the strabismic subtypes (0.34° ± 0.46° vs. 1.54° ± 1.48°, W = 338, P < 0.001). Conclusions: OCT fixation shift can be used both in detection and quantification of eccentric fixation in children with residual amblyopia, especially in those with strabismus. Translational Relevance: OCT fixation shift offers a convenient clinical approach in quantitative evaluation of eccentric fixation in children with strabismic amblyopia.

Ocular manifestations of Sturge-Weber syndrome.

PURPOSE OF REVIEW: Sturge-Weber syndrome (SWS) is a rare, congenital disease which frequently involves the eye. It is important that ophthalmologists recognize this syndrome and are aware of its range of ocular manifestations. The aim of this article is to present our understanding of the pathogenesis and clinical manifestations of this syndrome and provide updated information on the treatment of SWS glaucoma and choroidal hemangioma. RECENT FINDINGS: SWS glaucoma usually fails medical management. Surgical options include angle procedures, filtering procedures, device placement, and combination procedures. Combination procedures have become popular in this population due to the single procedure failure rate of angle surgery and the complications associated with device implantation. Choroidal hemangioma is best treated by photodynamic therapy. SUMMARY: Lifelong monitoring for ocular complications related to SWS is essential. There is a need for consensus guidelines on care and surveillance of patients with SWS to provide the best care for these patients.

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

GM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides. Here, we present biochemical, functional, and natural history data from 50 individuals homozygous for a pathogenic ST3GAL5 c.862C>T founder allele (median age 8.1, range 0.7-30.5 years). GM3 and its derivatives were undetectable in plasma. Weight and head circumference were normal at birth and mean Apgar scores were 7.7 ±â€¯2.0 (1 min) and 8.9 ±â€¯0.5 (5 min). Somatic growth failure, progressive microcephaly, global developmental delay, visual inattentiveness, and dyskinetic movements developed within a few months of life. Infantile-onset epileptic encephalopathy was characterized by a slow, disorganized, high-voltage background, poor state transitions, absent posterior rhythm, and spike trains from multiple independent cortical foci; >90% of electrographic seizures were clinically silent. Hearing loss affected cochlea and central auditory pathways and 76% of children tested failed the newborn hearing screen. Development stagnated early in life; only 13 (26%) patients sat independently (median age 30 months), three (6%) learned to crawl, and none achieved reciprocal communication. Incessant irritability, often accompanied by insomnia, began during infancy and contributed to high parental stress. Despite catastrophic neurological dysfunction, neuroimaging showed only subtle or no destructive changes into late childhood and hospitalizations were surprisingly rare (0.2 per patient per year). Median survival was 23.5 years. Our observations corroborate findings from transgenic mice which indicate that gangliosides might have a limited role in embryonic neurodevelopment but become vital for postnatal brain growth and function. These results have critical implications for the design and implementation of ganglioside restitution therapies.

Funduscopic examination and SD-OCT in detecting sickle cell retinopathy among pediatric patients.

PURPOSE: To compare the results of fundus examination and spectral domain optic coherence tomography (SD-OCT) in detecting retinal changes in pediatric patients with sickle cell disease at a single center. METHODS: In this prospective study, conducted over a period of 19 months, consecutive African American patients with sickle cell disease underwent complete ophthalmologic examination, and SD-OCT images of the maculas of both eyes were obtained. RESULTS: A total of 69 (37 males) patients aged 5-20 years (mean 12.89 ± 4.09; range, 2-20) with sickle cell disease (SC, 26; SS, 36; Sß+, 5; Sß0 thalassemia, 2) were examined. Patients' visual acuity range was 20/20 to 20/40. On funduscopic examination, 11 of 69 showed signs of retinopathy, whereas 47 of 68 showed inner retina thinning in the watershed zone temporal to the fovea on SD-OCT. On average, SD-OCT diagnosed disease 1.78 years earlier than fundus examination. Of patients <10 years of age, 1 was diagnosed with retinopathy by funduscopy, whereas retinal changes were evident on SD-OCT in 12 of 22. Fundus examination showed no significant difference in retinal findings between SS/Sß0 and SC genotypes. On SD-OCT, SS/Sß0 showed worse disease process than SC in frequency of diagnosis (82% vs 56%), bilateral involvement (87% vs 43%), and foveal involvement (18% vs 0). CONCLUSIONS: The peripheral retina could be visualized on fundus examination but not easily imaged on SD-OCT, which, however, had a higher detection rate and offered earlier diagnosis. In our patient cohort SD-OCT showed that the severity of retinal change was associated with more severe sickle cell disease genotypes (SS and Sß0).

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant condition characterized by ophthalmologic anterior segment abnormalities and extraocular findings including dental anomalies and redundant periumbilical skin. Intragenic mutations in the homeobox gene PITX2 or the transcription factor encoding FOXC1 were identified, and genomic rearrangements encompassing either gene also cause ARS. A molecular etiology is identified in 40-60%. Extraocular anomalies occur more often with intragenic PITX2 than FOXC1 mutations. We report on a patient with infantile glaucoma presenting at age 21 months with congestive heart failure due to a dysplastic arcade mitral valve necessitating valve replacement, and mildly hypoplastic left ventricular outflow tract and aortic arch. Family history included early onset glaucoma in four relatives; congenital hip dysplasia requiring surgery in three; and an atrial septal defect in the affected maternal grandmother. Despite the absence of dental or umbilical abnormalities, anterior chamber abnormalities consistent with ARS were present in affected individuals. Molecular testing revealed a novel FOXC1 mutation (c.508C>T; p.Arg170Trp) in the proband and his affected mother; other family members were unavailable. A literature review revealed four reports of congenital heart disease associated with intragenic FOXC1 mutations, and none with intragenic PITX2 mutations. Previously, mouse studies showed Foxc1 (Mf1) expression in the developing valves and atrial septum, supporting a causal relationship of FOXC1 mutations for valvar anomalies and ASD. Hip dysplasia in three family members suggests a role for FOXC1 in the femoral head dysplasia of de Hauwere syndrome with 6p25 deletions. Further reports of clinical and molecular diagnoses will clarify genotype-phenotype correlation.

Ophthalmology manifestations of pediatric cancer treatment.

PURPOSE OF REVIEW: Advances in pediatric oncology care have increased survival rates for children with malignancy. As a result, ophthalmologists are seeing more short-term and long-term complications associated with the treatment of these conditions. Ophthalmologists need to be aware of cancer treatment-related eye disorders. RECENT FINDINGS: Multiple eye findings are associated with cancer treatment, including chemotherapy, radiation, bone marrow transplantation, and newer modalities such as intra-arterial chemotherapy. Malignancy and treatment cause immunodeficiency that can lead to infectious disease manifestations, including eye involvement. Our understanding of the prevalence of eye involvement in infectious diseases is changing due to newer antimicrobial treatment modalities and earlier screening. Paraneoplastic conditions may manifest with eye findings either before the diagnosis of the primary malignancy or as a late finding. The evolution of IVF has raised concerns of increased cancer risks, including ocular tumors. SUMMARY: Ophthalmologists who are involved with the care of children undergoing cancer treatment need to be aware of the many eye manifestations that may result.

Update on retinopathy of prematurity: treatment options and outcomes.

PURPOSE OF REVIEW: To evaluate and review the recent scientific literature on retinopathy of prematurity (ROP). Recent studies have shown advancement in treatment options in ROP as well as improved functional and structural outcomes. This review compiles some of these recent findings. RECENT FINDINGS: New guidelines on ROP screening and treatment criteria have recently been developed and are now the standard of care for practitioners taking care of children having ROP. Recent advances in antiangiogenic therapies offer possible primary or adjunct treatment to the well established and effective laser treatment options. Follow-up of treated ROP patients informs us of the short-term and long-term complications requiring lifetime ophthalmology care. SUMMARY: This review offers an update on the screening and treatment guidelines, new treatment options, and short-term and long-term complications in ROP.

Systematic approach to pediatric ocular trauma.

PURPOSE OF REVIEW: The aim of this article is to evaluate and review the scientific literature on pediatric ocular trauma from the past several years. Recent advancements have recognized mechanisms of injury that may be unique to children, require different treatment course than adults, and raise multiple public health concerns. RECENT FINDINGS: Epidemiologic studies have shown that ocular trauma is a major cause of monocular blindness and potential disability in children worldwide. The mechanisms of injury are quite variable and often found under mundane circumstances. Orbital fractures in children are more likely to cause entrapment of orbital contents due to the structure of orbital bones at an early age and require earlier surgical repair. The management of traumatic hyphema responds well to outpatient care and topical aminocaproic acid. The management of traumatic cataracts has been enhanced with new iris-fixated lens implants. Endophthalmitis after ocular trauma carries a significantly worse prognosis, which may be reduced by early referral and intervention. SUMMARY: This review broadens our understanding of the mechanisms, treatment, and prognostic indicators in pediatric ocular trauma. This will allow improved clinical care of these injuries.

Arachnoid cyst resulting in sixth nerve palsy in a child.

A 2 year old presented with incomitant esotropia and abduction deficit consistent with sixth nerve palsy. Neuroimaging revealed an arachnoid cyst on the left. Neurosurgical shunting followed by strabismus surgery relieved the abduction deficit and esotropia. An arachnoid cyst may be a rare cause of acquired sixth nerve palsy and strabismus in children.