Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia.

BACKGROUND: Among sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosome in males, leading to a diverse range of physical, neurocognitive, behavioral, and psychological manifestations. Typical characteristics include a tall stature and infertility. Other phenotypes include congenital heart defects, skeletal anomalies, tremors, obesity, as well as the potential for type 2 diabetes and/or peripheral vascular disease. CASE PRESENTATION: A 6-year-old boy, who had been experiencing progressive vision deterioration in both eyes for the past two years, presented with a history of poor vision, delayed motor skills. The patient was diagnosed with micropenis in the pediatric outpatient clinic. Sparse hair, an unusually tall stature and craniofacial dysmorphology characterized by ocular hypertelorism, depressed nasal bridge, and epicanthic folds were observed. Comprehensive ophthalmic examination revealed high myopia and grade 3 macular hypoplasia. Diagnostic investigations including karyotype analysis and whole-exome sequencing identified an anomalous male karyotype comprising two X and two Y chromosomes, confirming a diagnosis of 48, XXYY syndrome. CONCLUSIONS: This study underscores the rare association of high myopia and grade 3 macular dysplasia with 48, XXYY syndrome. To our knowledge, this case marks the first recorded instance of macular dysplasia in a patient with 48, XXYY syndrome. This novel finding enhances our understanding of this syndrome's phenotypic variability.

NONINVASIVE DIAGNOSTIC STRATEGY OF OCULAR TOXOCARIASIS BASED ON CLINICAL FEATURES.

PURPOSE: To develop a noninvasive diagnostic strategy based on the clinical manifestations of ocular toxocariasis (OT) and evaluate its sensitivity and specificity. METHODS: Patients with unilateral OT-like lesions were enrolled retrospectively and classified into OT and non-OT groups according to the immunologic diagnosis criterion of anti-OT immunoglobulin G. Nine clinical manifestations were recorded and compared between the groups. Among them, the retrolental membrane, branch-like vitreous strands, and retinal granulomas were the most common, which were further classified into three categories, including at least 1 of three signs, at least two of three signs, and all three signs positive. Diagnostic sensitivity and specificity were calculated for each strategy. RESULTS: There were 105 immunologically confirmed patients with OT and 70 patients with non-OT uveitis/vitreoretinopathy. Retinal granulomas, retrolental membrane, and branch-like vitreous strands were significantly more frequent in OT patients than in non-OT patients. At least 1 of 3 signs positive strategy showed the highest sensitivity (100.0%) but the lowest specificity (62.0%). At least 2 of 3 signs positive strategies showed 80.0% sensitivity and 94.3% specificity. All 3 signs positive strategies had the lowest sensitivity (46.7%) and the highest specificity (100.0%). The cutoff point of this revealed an area under the curve of 0.85 and a 95% confidence interval of 0.79 to 0.91. CONCLUSION: A comprehensive strategy based on at least two out of three positive signs showed excellent sensitivity and specificity and could serve as a noninvasive and fast screening strategy for the clinical diagnosis of OT.

Paediatric staphyloma classification: new perspectives via ultrawide field three-dimensional swept-source optical coherence tomographic angiography.

AIM: To employ ultrawide field three-dimensional swept-source optical coherence tomographic angiography (UWF 3D SS-OCTA) modality, integrating novel strategies, posterior eye curvature maps and posterior eye height maps, in characterising the features and disease associations of posterior staphyloma in paediatric patients. This study seeks to compare paediatric staphylomas to established adult classifications, identify distinct paediatric patterns and introduce a new classification system for paediatric staphyloma using advanced multimodal imaging. METHODS: UWF 3D SS-OCTA imaging, integrating posterior eye curvature maps and posterior eye height maps strategies, was employed to analyse staphyloma presentations in the paediatric cohort. These data were then set against the traditionally established adult classifications. Additionally, the aetiology of staphylomas was investigated. RESULTS: The UWF 3D SS-OCTA modality, when integrated with posterior eye curvature maps and posterior eye height map, showcased superior imaging detail and better classification compared with UWF scanning laser ophthalmoscope, offering a more nuanced view of staphyloma patterns in paediatric patients. Specifically, only 54.7% of the paediatric cohort fit into previously recognised categories. The paediatric group displayed prominent temporal and inferior temporal staphylomas, likely linked to the high prevalence of peripheral vascular diseases. The study led to the proposal of five unique paediatric staphyloma classifications. CONCLUSIONS: The UWF 3D SS-OCTA modality with posterior eye curvature maps and posterior eye height maps offers unparalleled insights into staphyloma patterns, especially in paediatric patients. Paediatric staphylomas exhibit a unique presentation, divergent from adults, with two novel types identified. The findings underline the importance of updating classification systems, ensuring they reflect the realities observed in paediatric pathology and diagnostics.

Pattern of choroidal thickness in early-onset high myopia.

Purpose: To explore the etiology and choroidal thickness (ChT) pattern in children with early-onset high myopia (eoHM). Methods: Sixty children with eoHM and 20 healthy controls were enrolled in this study between January 2019 and December 2021. All children underwent comprehensive ophthalmologic examinations including swept-source optical coherence tomography. ChT was measured in the subfoveal region and at 1000 µm and 2,500 µm nasal, temporal, superior, and inferior to the fovea. Results: Overall, 120 eyes of 60 children with eoHM were examined (mean spherical equivalent, -8.88 ± 3.05 D; mean axial length, 26.07 ± 1.59 mm). Simple high myopia (SHM), familial exudative vitreoretinopathy (FEVR), and Stickler syndrome (STL) were the most frequent etiologies of eoHM and were included in further ChT analysis. Adjusted the effect of SE, multivariate regression analysis showed that children with SHM had thinnest ChT at N2500 and I2500 among the subgroups (p = 0.039, p = 0.013). FEVR group showed thinner ChT at T2500 (p = 0.023), while STL patients exhibited thin ChT at all locations. Conclusion: This study revealed that SHM, STL and FEVR was the most frequent etiology, and showed a distinctive pattern of ChT. Asymmetric nasal ChT thinning is a distinctive biomarker for SHM, asymmetric temporal ChT thinning might serve as a biomarker for FEVR, and symmetric diffuse thinning is more common in STL. These ChT patterns may provide a convenient, fast, and noninvasive strategy to differentiate the potential etiology of eoHM.

Oral Fluorescein Angiography with Ultra-Wide-Field Scanning Laser Ophthalmoscopy in Pediatric Patients Precis: Oral Fluorescein Angiography in Children.

Aims: To investigate the success rate of oral fluorescein angiography (oral FA) in children with ultrawide scanning laser ophthalmoscopy (SLO) system and whether it can provide images of sufficient quality compared with intravenous FA (IVFA). Methods: In this comparative case series study, a series of 40 consecutive pediatric patients of the age of 3−18 with retinal vascular diseases, in whom FA was needed for the diagnosis or treatment, were enrolled in this study. IVFA and oral FA were performed within one week and images were obtained with the SLO system. The image quality was scored blindly and compared based on: (I) visualization of the branch retinal vessel, (II) the foveal avascular zone (FAZ), and (III) clinically important findings, such as the presence of microaneurysms, neovascularization, leakage, or significant nonperfusion. All these were scored using a three-point scale. Results: In preschoolers (three to six years), all 19 children complete oral FA (100%), while only 7 (36.84%) complete IVFA (p < 0.0001). With the SLO system, the branch retinal vessels were well visualized both in oral and IV FA (all images were two scores). The visualization of FAZ was similar between oral and IV FA (p = 0.8972). The clinically important findings were well visualized in both groups (p > 0.9999). The overall image quality was similar between the two groups (p = 0.2500). Conclusion: Oral FA is more acceptable to preschoolers than IVFA owing to the needle-free procedure. With the SLO system, oral FA provided high-quality angiograms similar to IVFA. Oral FA is an effective alternative to IVFA and may be considered the first option for FA in pediatric patients, especially in preschoolers.

Targeting Myeloid-Derived Suppressor Cell, a Promising Strategy to Overcome Resistance to Immune Checkpoint Inhibitors.

Immune checkpoint inhibitors (ICIs) are starting to transform the treatment for patients with advanced cancer. The extensive application of these antibodies for various cancer obtains exciting anti-tumor immune response by activating T cells. Although the encouraging clinical benefit in patients receiving these immunostimulatory agents are observed, numbers of patients still derive limited response or even none for reasons unknown, sometimes at the cost of adverse reactions. Myeloid-derived suppressor cells (MDSCs) is a heterogeneous immature population of myeloid cells partly influencing the efficacy of immunotherapies. These cells not only directly suppress T cell but mediate a potently immunosuppressive network within tumor microenvironment to attenuate the anti-tumor response. The crosstalk between MDSCs and immune cells/non-immune cells generates several positive feedbacks to negatively modulate the tumor microenvironment. As such, the recruitment of immunosuppressive cells, upregulation of immune checkpoints, angiogenesis and hypoxia are induced and contributing to the acquired resistance to ICIs. Targeting MDSCs could be a potential therapy to overcome the limitation. In this review, we focus on the role of MDSCs in resistance to ICIs and summarize the therapeutic strategies targeting them to enhance ICIs efficiency in cancer patients.