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Delayed Sensory Exotropia With Retained Metallic Intraorbital Foreign Body.
J Pediatr Ophthalmol Strabismus
January 2025
This report describes the longest case of a retained metallic intraorbital foreign body with no complications and development of delayed sensory exotropia following traumatic sclopetaria in childhood. A 9-year-old girl suffered a BB gun injury to the left eye, leading to chorioretinitis sclopetaria and loss of vision. The visual acuity was 20/800 with a relative afferent pupillary defect and choroidal rupture with subretinal hemorrhage that evolved to sclopetaria over time.
View Article and Find Full Text PDFBacillary layer detachment: Updates on its clinical and prognostic significance in retinal disease.
Surv Ophthalmol
January 2025
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan 20072, Italy; Department of Ophthalmology, Eye Unit Humanitas Gavazzeni-Castelli, via Mazzini 11, Bergamo, Italy.
Bacillary layer detachment (BALAD) refers to the distinctive splitting at the level of the photoreceptor inner segment myoid and accumulation of intraretinal fluid, as seen on optical coherence tomography (OCT). BALAD is an increasingly recognized OCT biomarker of numerous heterogeneous chorioretinal diseases, including posterior uveitis, age-related macular degeneration and macular neovascularization, neoplastic and paraneoplastic retinal disorders, rhegmatogenous retinal detachment, blunt ocular trauma, and miscellaneous conditions. The recognition of BALAD is clinically relevant because, based on the specific etiology, BALAD may require simple observation, ocular or systemic medical treatment, or even surgical intervention, with subsequent different prognosis.
View Article and Find Full Text PDFTwo Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.
Genes (Basel)
December 2024
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.
View Article and Find Full Text PDFOxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.
Antioxidants (Basel)
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic and inflammatory pathways. The zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects the photoreceptors, retinal pigment epithelium (RPE), and choroid.
View Article and Find Full Text PDFObjective: To investigate the long-term impact of half-fluence photodynamic therapy (PDT) on chorioretinal architecture in chronic central serous chorioretinopathy (cCSCR) through novel choroidal vascularity index (CVI) versus previously established subfoveal choroidal thickness (SFCT).
Methods: This post-hoc analysis included prospectively collected swept-source optical coherence tomography (SS-OCT) images of a total of 29 cCSCR and fellow eyes (FE), acquired before, one and 12 months after PDT. CVI, total choroidal area (TCA), luminal area (LA) and stromal area (SA) were calculated using validated binarization technique.
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