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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) mm 3 vs. 8.62 (IQR 8.39-8.96) mm 3 , 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., (© 2024. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

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., (© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.)

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., (© 2021. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)

Background: Optic nerve head drusen (ONHD) are considered the most common cause for pseudopapilloedema in children. We aimed to investigate and further characterize a new type of optic nerve head lesion on enhanced depth imaging optical coherence tomography (EDI-OCT) named peripapillary hyperreflective ovoid mass-like structures (PHOMS), and ONHD in asymptomatic children with pseudopapilloedema., Methods: Retrospective cohort study including 64 eyes from 32 patients with pseudopapilloedema due to PHOMS and/or ONHD. Mean age was 9.0 ± 3.1 years. PHOMS and ONHD were identified and classified on EDI-OCT and infrared images. Ultrasound images were classified for the presence of hyperechogenic structures of the optic nerve head., Results: On EDI-OCT, PHOMS were detected in 63 out of 64 eyes (98.4%). In 60 eyes (93.8%), small hyperreflective foci inside the PHOMS were present. In all cases, we identified a new ring sign visible on infrared images, corresponding clearly to the edge of the PHOMS as seen on EDI-OCT. On ultrasound, we describe a new feature of PHOMS appearing as small hyperechogenic structures without posterior shadowing. In 13 eyes (20.3%), ONHD were present on EDI-OCT and ultrasound., Conclusion: This is the first study showing that PHOMS are the most common cause for pseudopapilloedema in children. PHOMS is a new entity of optic nerve head lesions. It might be a precursor of buried optic nerve head drusen, which can lead to visual field defects, haemorrhages and CNV. This study offers new tools to identify and follow-up these lesions early in childhood using EDI-OCT.