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Focal choroidal excavation (FCE)-related choroidal neovascular membrane (CNV) in a child.
Retin Cases Brief Rep
June 2024
Department of Ophthalmology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905.
Purpose: To report the rare clinical, optical coherence tomography (OCT), and OCT-angiography findings of a visually significant choroidal neovascular membrane (CNV) in the setting of focal choroidal excavation (FCE) in a child.
Methods: Case report and literature review.
Results: A 9-year-old girl with FCE-related central CNV based on clinical findings and multimodal imaging.
Comparison of ocular posterior segment parameters in the pediatric population with migraine without aura and tension-type headache.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, University of Health Sciences, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Türkiye.
Background: This study aims to compare the posterior ocular structure parameters in children with migraine without aura (MWA), tension-type headache (TTH), and a healthy control group.
Methods: The study included 31 patients with MWA, 29 patients with TTH, and 38 healthy controls between 6 and 18 years of age. For all participants, the detailed eye examination and measurements including peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vessel densities and foveal avascular zone (FAZ) parameters measured by optical coherence tomography (OCT) and OCT-angiography (OCTA), were obtained from the patient files.
Introduction: In USA, six million individuals with Sub-Saharan ancestry carry two high-risk variants, which increase the risk for kidney diseases. Whether APOL1 high-risk variants are independent risk factors for cardiovascular diseases is unclear and requires further investigation.
Methods: We characterized a mouse model to investigate the role of APOL1 in dyslipidemia and cardiovascular diseases.
Anti-Syndecan 2 Antibody Treatment Reduces Edema Formation and Inflammation of Murine Laser-Induced CNV.
Transl Vis Sci Technol
January 2025
Yale Cardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
Purpose: Alteration of visual acuity in wet age-related macular degeneration (AMD) is mostly driven by vascular endothelial growth factor A (VEGF-A)-induced edema from leaky newly forming blood vessels below the retina layers. To date, all therapies aimed at alleviation of this process have relied on inhibition of VEGF-A activity. Although effective in preventing vascular leak and edema, this approach also leads to the loss of normal vasculature and multiple related side effects.
View Article and Find Full Text PDFALG8-CDG: Advances in Molecular and Prenatal Phenotyping Facilitate Prenatal Diagnosis and Genetic Counseling.
QJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
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