Daphna Mezad-Koursh

Background The vitreous evolves from birth over lifetime. Little is known about the appearance of the healthy vitreous during childhood. We aimed to characterise posterior vitreous features in healthy children using spectral domain optical coherence tomography (SD-OCT). Methods Retrospective cohort study including healthy eyes of 78 children aged 2–12 years and 39 healthy adults. Patients diagnosed with intraocular inflammation or vitreoretinal pathology were excluded. Main Outcome: Proportion of eyes with presence of punctate hyperreflective vitreous opacities (PHVO). Percentage of B-scans demonstrating PHVO within an OCT volume scan, correlation between presence of PHVO and patients’ age group, retinal measurements, and presence of premacular bursa were analysed. Results 154 paediatric eyes (median age 9.08 (IQR 5.17–9.75) years) and 76 adult eyes (30.75 (IQR 26.42–38.08) years) were included; 12244 OCT images were reviewed. All eyes (100%) in the paediatric group and 73% in the adult group presented PHVO. The median percentage of OCT images showing PHVO was 77.05% (IQR 51.23–88.52) in children and 8.0% (IQR 0–16.03) in adults (p < 0.001). Separate analysis of right and left eyes confirmed the results (p < 0001). Premacular bursa appeared in 20.5% of paediatric and 31.6% of adult eyes (p = 0.103). Mean central subfield thickness was significantly lower in children (257 ± 21 µm vs. 276 ± 18 µm, p < 0.001), while median total macular volume was similar (8.59 (IQR 8.25–8.86) mm³ vs. 8.62 (IQR 8.39–8.96) mm³, p = 0.145). Conclusions This study demonstrates that PHVO are ubiquitous physiologic vitreous findings in healthy children beyond infancy. These findings enhance the understanding of the development of the posterior segment of the eye and might improve paediatric OCT interpretation, potentially avoiding misdiagnoses and unnecessary interventions in children.

To describe the variability in carotenoid content of human milk (HM) in mothers of very to extremely low birth weight preterm infants throughout lactation and to explore the relationship between lutein in HM and the occurrence of retinopathy of prematurity (ROP) in preterm infants. We recruited healthy mothers along with their preterm infants that were born at gestational age 24 + 2 to 29 + 6 weeks or with a birth weight under 1500 g and were exclusively breastfed HM. Each participant provided up to 7 HM samples (2–10 ml) on day 0–3 and once a week until 6 weeks. Additionally, when possible, a blood sample was collected from the infant at week 6. Concentrations of the major carotenoids (lutein, zeaxanthin, beta-carotene, and lycopene) in all HM and blood samples were assessed and compared. Thirty-nine mother-infant dyads were included and 184 HM samples and 21 plasma samples were provided. Mean lutein, zeaxanthin, beta-carotene, and lycopene concentration decreased as lactation progressed, being at their highest in colostrum samples (156.9 vs. 66.9 vs. 363.9 vs. 426.8 ng/ml, respectively). Lycopene (41%) and beta-carotene (36%) were the predominant carotenoids in colostrum and up to 2 weeks post-delivery. Inversely, the proportion of lutein and zeaxanthin increased with lactation duration to account for 45% of the carotenoids in mature HM. Lutein accounted for 58% of the carotenoids in infant plasma and only 28% in HM. Lutein content of transition and mature HM did not differ between mothers of ROP and non-ROP infants.Conclusion Carotenoid content of HM was dynamic and varied between mothers and as lactation progressed. Infant plasma displayed a distinct distribution of carotenoids from HM.

To report clinical outcomes following ocular injury from foam dart (nerf) blasters - a spring-loaded toy guns that fire foam-coated darts or bullets at a relatively low velocity. These guns gained popularity in recent years among children and adolescents. Eleven patients with ocular injuries from foam dart blasters were included in this retrospective, single-center study. Visual acuity (VA), intraocular pressure (IOP), and anterior segment, glaucoma-related, and vitreoretinal complications were recorded at each visit. The average age at presentation was 13.4 years and 82% were male. Mean initial VA was 6/12 (range 6/6 – 1/18); On initial examination, nine patients (82%) had hyphema, three (27%) had corneal abrasions, three (27%) had vitreous hemorrhage, and two (18%) had traumatic mydriasis. Four patients (36%) experienced glaucoma-related complications, including three (27%) with angle recession and three (27%) with increased IOP. Three patients (27%) were diagnosed with posterior segment injuries, including three (27%) with commotio retinae and one (9%) with severe retinal photoreceptor damage. No patients required surgical intervention. Conclusion: Foam dart blasters can cause severe blunt ocular trauma and permanent visual loss, illustrating the need for eye protection when handling these toys. What is Known: • Foam dart blasters, a blanket term for spring-loaded toy guns that fire foam-coated darts or bullets at a relatively low velocity, have gained popularity in recent years among pediatric populations, with an increase in associated ocular injuries. • To date, scattered case reporting provides insufficient insight into the full clinical spectrum of injury and prognosis of foam dart blasters related ocular injury. What is New: • This case series characterizes the myriad foam dart blasters injuries that may afflict the eye, most of which are self-limiting, but some of which may result in poor visual outcomes and lifelong disability in pediatric patients. • We strongly recommend that all users wear eye protection while using foam dart blasters.

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations leads to a variable expression of an allele with the pathogenic variant, independent of the X-Inactivation pattern. This novel mechanism of co-existent biallelic mosaicism should be suspected in unexplained severe cases of OFCD.

Background: This study is aimed to evaluate the clinical approach of non-pediatric ophthalmologists, working in community-based clinics towards Pediatric Patients and their management including referral rates to Pediatric Ophthalmologists and Orthoptists. Methods: an online survey was sent to all community ophthalmologists through national society and social media platforms. The questionnaire included questions regarding the responders’ professional experience as well as regarding the responders’ approach to children younger than 8 years, and the level of confidence in 4 main aspects of children’s management and referral rates. Results: 93 physicians working as general ophthalmologists completed the questionnaire. Most respondents have been in practice for over 10 years (64/93, 68.8%) and over two-thirds were also hospital affiliated (65/93, 69.1%). The responders estimated on average that 35.1 ± 29.6% of patients under 8 years of age are referred for a consult to a pediatric ophthalmologist The level of confidence of three aspects unique to Pediatric Ophthalmology; cycloplegic refraction, strabismus evaluation, and prescribing glasses were significantly lower ( p < 0.01) than confidence in performing a basic eye exam. Conclusions: many Ophthalmologists do not feel fully capable or experienced to perform the appropriate tests for the pediatric population, especially during the critical timeframe, before 8 years of age. The very high rate of referrals stands in contradiction to the reported low rate of eye pathologies in the pediatric population. These findings suggest that more pediatric-specific training is needed to improve the physician’s skills to perform a comprehensive evaluation of pediatric patients in order to reduce the referral burden.

We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene.

Objectives This paper evaluates the accuracy of the Eye-N-JOY (ENJ), a novel device (Patent no. US 9844317 B2), for identifying the presence of amblyopic risk factors. This device was developed to assess both visual acuity, ocular alignment, and eye movement; all while watching images on a tablet screen. Methods A prospective, single-center, comparison study. Participants were examined by the ENJ first and then underwent a comprehensive full eye examination by pediatric ophthalmologists including cycloplegic refraction. Both the technician operating the ENJ and the physicians were masked to each other’s findings. Children aged 18–72 months (1.5 to 6 years) attending a tertiary medical center for a full standard pediatric ophthalmology examination were included. The visual acuity and alignment were compared between the ENJ and the gold standard full ophthalmologic examination. The differences were noted, and the sensitivity and specificity were calculated. Results A total of 51 children were enrolled, 33 (64.7%) girls, aged 18–72 months. All children successfully completed the examination by the ENJ. No significant difference between the ENJ and the reference examination was detected in visual acuity measurements in both eyes (Pv = 0.553 for the right eye and 0.803 for the left). Overall agreement between all referral indications between the ENJ and reference examination was 84.3%, with 90.9% agreement in VA referral criteria and 90.1% in alignment referral criteria. Conclusions Eye-N-Joy can reliably examine both visual acuity and ocular misalignment in verbal and pre-verbal children.

Optic pathway glioma (OPG) is a common and significant complication of neurofibromatosis 1 (NF-1) that might lead to vision loss. The main reason to treat OPG is to preserve vision. Tumor location along the visual pathway largely dictates the presenting signs and symptoms. Clinical ophthalmic evaluation is focused on optic nerve functions including evaluation of pupils’ reaction to light, visual acuity, color vision, and visual field, as well as optic nerve appearance. An important relatively new ancillary test is optic coherence tomography (OCT) that measures the volume of retinal nerve fiber layer around the optic nerve and the ganglion cell layer-inner plexiform layer (GCL-IPL) of the macula, both proved to be strongly associated with losing vision in OPG. Accurate evaluation of vision functions plays a critical role in the decision of treatment. In this review, we describe the ophthalmological assessment including new biomarkers in clinical use. We also outline prognostic factors and current recommendations for surveillance and indications for treatment.

Eye injuries are important cause of ocular morbidity in children. There is lack of data regarding predictors for high-risk injuries that will result in ophthalmic complications. Most cases are managed by the emergency department (ED) physicians without immediate ophthalmologist evaluation. Our aim was to identify predictors for ophthalmological complications and to imply indications for early ophthalmologic consultation in the ED. A retrospective chart review of 834 patients ages 0–18 years who presented to the emergency department at Tel Aviv Medical Center between 2015 and 2018 following traumatic eye injuries was performed. All cases which later needed ophthalmological care were considered as high-risk for ophthalmic complications. An increased rate of eye injury was revealed over the years, but high-risk injury rate was stable. High-velocity mechanism, sport injury, orbital, anterior chamber, and retinal involvement were all significantly more common in the high-risk group compared to the low risk group. Only 10 patients, which represent 1.2% of all the patients, had decreased visual acuity on the last follow up, with significantly more injuries of high-velocity mechanism and anterior chamber involvement, in comparison to patients with normal visual acuity on the last follow up. Conclusion: High-velocity mechanism by itself, even with normal visual acuity and eye examination by the ED physician, should prompt to consider an urgent ophthalmologist consult. What is Known: •Traumatic eye injuries are an important cause of ocular morbidity in children. • Most injuries can be handled by a trained ED physician, but there are indications for an urgent ophthalmologist consultation. • It is crucial to discriminate between low and high-risk ocular injuries. What is New: • High-velocity mechanisms stand out as the most likely risk factor for final impaired visual acuity. • Normal visual acuity on presentation is not reassuring. • We recommend urgent ophthalmologist consultation in cases of high-velocity injury, even if visual acuity is preserved at presentation.