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Glaucoma is a leading cause of irreversible blindness, often associated with elevated intraocular pressure (IOP) due to trabecular meshwork (TM) dysfunction. Diabetes mellitus (DM) is recognized as a significant risk factor for glaucoma; however, the molecular mechanisms through which hyperglycemia affects TM function remain unclear. This study investigated the impact of high glucose on gene expression in human TM (HTM) cells to uncover pathways that contribute to TM dysfunction and glaucoma pathogenesis under diabetic conditions.

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Herpes zoster (HZ) is increasingly common in the aging and is experienced by approximately one in three people in their lifetime. It is also relatively common in immune-compromised people. Acute HZ causes severe pain, reduced quality of life and severe complications, including prolonged pain, or postherpetic neuralgia (PHN), and ocular zoster, which may rarely progress to blindness.

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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

J Inherit Metab Dis

January 2025

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

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Importance: Intraventricular hemorrhage (IVH) has proven to be a challenging and enduring complication of prematurity. However, its association with neurodevelopment across the spectrum of IVH severity, independent of prematurity, and in the context of contemporary care remains uncertain.

Objective: To evaluate national trends in IVH diagnosis and the association with survival and neurodevelopmental outcomes at 2 years of age.

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Wyburn-Mason disease (WMD) is a rare congenital phakomatosis known for its complex arteriovenous malformations (AVMs) predominantly affecting the brain and ocular structures. We present the case of a 19-year-old female with an unruptured Spetzler-Martin grade 5 left thalamic AVM, who initially exhibited progressive visual impairment and migraines. Following diagnosis, she was treated with trametinib, a MEK inhibitor; however, nine months later, she developed acute complications, including left monocular blindness and right hemisensory loss.

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