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Erika Aguzzi09/06/2026, 12:20Disease MechanismsFlash Talk
Leber congenital amaurosis type 4 (LCA4) is an early-onset inherited retinal disorder caused by pathogenic variants in AIPL1. Dysfunction of AIPL1 compromises the stability of phosphodiesterase 6 (PDE6), leading to non-homeostatic accumulation of cyclic guanosine monophosphate (cGMP), which is strongly implicated in photoreceptor degeneration. Despite this, the initial cellular and molecular...
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Gina Gilpin (UCL / Francis Crick Institute)09/06/2026, 12:23Visual NeuroscienceFlash Talk
During development, cells self-organise into functional tissues through local interactions, yet the mechanisms coordinating form with function remain poorly understood. Müller glia (MG), the principal glia of the retina, establish non-overlapping territories that span all retinal layers, providing metabolic support and synaptic regulation. How MG coordinate territorial organisation during...
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Dr Freddie L. Braddock (UCL Institute of Ophthalmology, University College London, London, UK)09/06/2026, 12:26Genomic and Translational MedicineFlash Talk
INTRODUCTION
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Keratoconus (KC) is a complex, progressive corneal ectasia and one of the most common causes of visual deterioration in young adults. Genetic risk contributes to the development of KC, but we lack understanding of the aetiology of this condition. Here we aim to complement our GWAS approaches with experimental investigation of familial KC, with the potential to identify rare... -
Sara Romero Vázquez (UCL Institute of Ophthalmology, London EC1V 9EL, UK)09/06/2026, 12:29Genomic and Translational MedicineFlash Talk
Background: Patients with biallelic mutations in RLBP1 gene develop a spectrum of autosomal recessive rod-cone dystrophies, for which there are currently no approved treatments. RLBP1 encodes cellular retinaldehyde binding protein 1 (CRALBP), a 36-kD protein that regenerates the visual chromophore 11-cis retinal. In this study, we aimed to assess the efficacy of RLBP1-mRNA therapy introduced...
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Yuxuan Meng (UCL IoO and Morfields Eye Hospital)09/06/2026, 15:15Disease MechanismsFlash Talk
Hyalocytes are macrophage-lineage border immune cells located at the posterior hyaloid and vitreoretinal interface (VRI), a specialised compartment between the vitreous and neural retina. Clinical OCT frequently reveals punctate hyperreflective cell-like signals at this interface, but their cellular identity remains uncertain. These signals are often grouped under broad descriptive terms such...
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Rose Avient09/06/2026, 15:18Disease MechanismsFlash Talk
Luxturna was the first approved adeno-associated virus (AAV)-based gene therapy, however, patients exhibit progressive retinal atrophy following treatment. One proposed cause is a transgene-specific cytotoxic CD8+ T cell response. Notably, this is not observed in mice suggesting they lack comparable CD8+ responses, limiting their ability to recapitulate clinical observations. This project...
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Roxana Lungu (University College London)09/06/2026, 15:21Ocular Development and AgeingFlash Talk
Synaptic pruning is a neurodevelopmental checkpoint that occurs to eliminate excess neurons and refine circuits in the nervous system. The retina consists of highly organised networks of neuronal and glial cells that connect to pass visual information. However, the cellular and molecular processes behind synaptic pruning in the retina remain unclear. Glial cells, like astrocytes, microglia...
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Andrea Martello (University College London)
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