9 June 2026
Darwin Building
Europe/London timezone

Contribution List

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  1. Marc Pabst (University College London), Alison Hardcastle (UCL Institute of Ophthalmology)
    09/06/2026, 09:20
  2. Zuzanna Dzieniak (UCL Institute of Ophthalmology)
    09/06/2026, 09:30
    Disease Mechanisms
    Talk

    Diabetic retinopathy (DR) is one of the leading causes of irreversible blindness in people of working age. It is characterised by retinal vascular degeneration due to chronically elevated blood glucose levels. As the disease progresses, ischemia causes abnormal neovascularisation leading to retinal detachments, haemorrhage and vision loss.
    We characterised pathological retinal vessel...

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  3. Yi Jiang
    09/06/2026, 09:45
    Disease Mechanisms
    Talk

    Ciliopathies are a group of disorders associated with pathogenic variants in genes that result in abnormal formation or dysfunction of cilia. Retinal degeneration is a common feature in ciliopathies. Pathogenic variants in Intraflagellar transport 140 (IFT140) are associated to syndromic and non-syndromic ciliopathies. Yet, the different effects of IFT140 variants in different tissues,...

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  4. Peter Bloomfield
    09/06/2026, 10:00
  5. Helen Baker, Helen Khan
    09/06/2026, 10:15
  6. Marc Pabst (University College London), Giulia De Rossi (University College London)
    09/06/2026, 10:45

    Have you ever wondered what your favourite institute director struggled with as a graduate student? What they struggle with now? Growing up in Science is a conversation series featuring personal narratives of becoming and being a scientist.

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  7. Enny van Beest (UCL - Institute of Ophthalmology)
    09/06/2026, 11:25
    2
    Visual Neuroscience
    Talk

    Navigation is a complex goal-directed behaviour that requires the integration of sensation, reward, motion, and internal spatial representations to understand one’s position in the environment. Forms of spatial representations were identified in many brain regions beyond the hippocampal formation. However, these findings arose from a variety of experimental conditions, often not suited to...

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  8. Aleksandra Krzywanska (University College London, Institute of Ophthalmology)
    09/06/2026, 11:40
    Ocular Development and Ageing
    Talk

    The retina, a light-sensitive tissue at the back of the eye, undergoes neurodegeneration and vision loss with age. Progress in understanding these processes, and in developing treatments for age-related retinal diseases, has been limited by the difficulty of studying aged human tissue and the constraints of traditional animal models. The African turquoise killifish, with its short lifespan of...

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  9. Farah Olivia Rezek (UCL)
    09/06/2026, 11:55
    Genomic and Translational Medicine
    Talk

    Doyne honeycomb retinal dystrophy is an incurable juvenile macular dystrophy that leads to visual impairment by early to mid-adulthood. It is an autosomal dominant disorder caused by a c.1033C>T, p.Arg(345Trp) variant in EFEMP1, and is characterised by the early onset extracellular deposition of drusen between the retinal pigment epithelium basement membrane and underlying layers of Bruch’s...

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  10. Ah-Lai Law
    09/06/2026, 12:10
  11. Andrea Martello (University College London)
    09/06/2026, 12:15
  12. Erika Aguzzi
    09/06/2026, 12:20
    Disease Mechanisms
    Flash 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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  13. Gina Gilpin (UCL / Francis Crick Institute)
    09/06/2026, 12:23
    Visual Neuroscience
    Flash 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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  14. Dr Freddie L. Braddock (UCL Institute of Ophthalmology, University College London, London, UK)
    09/06/2026, 12:26
    Genomic and Translational Medicine
    Flash Talk

    INTRODUCTION
    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...

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  15. Sara Romero Vázquez (UCL Institute of Ophthalmology, London EC1V 9EL, UK)
    09/06/2026, 12:29
    Genomic and Translational Medicine
    Flash 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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  16. 09/06/2026, 13:25
    Visual Neuroscience
    Poster

    Background: Young people with vision impairment (VI) report lower well-being than their peers, but the mechanisms underlying this disparity are not well understood. Evidence for the effectiveness of existing emotional support is limited, and provision is often inconsistent. This study used qualitative interviews to explore factors that hinder or support well-being in adolescents with acquired...

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  17. 09/06/2026, 13:25
    Ocular Development and Ageing
    Poster

    Purpose: Celastrol, a quinone methide triterpenoid isolated from Tripterygium wilfordii, possesses antioxidant, anti inflammatory and anti apoptotic properties, making it a promising neuroprotective candidate for retinal neurodegenerative diseases such as glaucoma. However, effective therapeutic rescue and preservation of retinal ganglion cells (RGCs) remain an unmet clinical need. The partial...

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  18. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    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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  19. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Retinitis Pigmentosa (adRP) is the most common Inherited Retinal Dystrophy (IRD). The autosomal-dominant form (adRP) accounts for 25-30% of the cases. adRP primarily affects rod photoreceptors and can progress into the central retina, affecting cone photoreceptor function and survival. We recently identified multiple genomic structural variants (SVs) at the previously unsolved RP17 locus on...

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  20. 09/06/2026, 13:25
    Genomic and Translational Medicine
    Poster

    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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  21. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Myopia is a leading global ophthalmologic disorder, with 50% of the population projected to be affected by 2050. Current management focuses on optical correction, neglecting the underlying pathological remodeling of posterior ocular tissues. Furthermore, animal models are limited in translational validity to human outcomes due to interspecies differences.
    To overcome these challenges, we...

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  22. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Microglia are the resident immune cells of the central nervous system and are thought to play key roles in retinal disease. However, distinguishing microglia from infiltrating macrophages remains a challenge, as both cell types share overlapping transcriptional and functional profiles. This complicates interpretation of immune activation in retinal disorders such as age‑related macular...

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  23. 09/06/2026, 13:25
    Ocular Development and Ageing
    Poster

    The vertebrate eye originates from a single forebrain-derived eye field, which splits into two optic vesicles during evagination. While this process is generally assumed to generate bilaterally symmetric structures, it remains unclear whether symmetry is established during this initial evagination or is subsequently rectified.
    To address this, we used zebrafish as a vertebrate model because...

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  24. 09/06/2026, 13:25
    Visual Neuroscience
    Poster

    Vision plays a crucial role in navigation, particularly when tasks require spatial awareness and quick decision-making. Following loss of vision, compensatory approaches are needed to navigate, including use of other senses, memory of a journey (path retracing) and calculation of a homing path (path integration). Although it is commonly assumed that memory is too imprecise to serve as a...

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  25. 09/06/2026, 13:25
    Genomic and Translational Medicine
    Poster

    Title: Extracellular matrix gene dysregulation and alternative splicing in Fuchs endothelial corneal dystrophy stratified by TCF4 repeat expansion status.

    Purpose: Fuchs Endothelial Corneal Dystrophy (FECD) is characterised by abnormal extracellular matrix (ECM) protein accumulation and corneal endothelial cell (CEC) loss. Most European cases (~80%) are associated with a...

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  26. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Introduction
    Pathological leakage and angiogenesis are hallmark features of diabetic retinopathy (DR), with vascular endothelial growth factor (VEGF) prominently driving disease. However, therapeutic targeting of VEGF is only fully effective for around half of patients, pointing to important yet unknown VEGF-independent mechanisms. Galectin-1, a β-galactoside-binding protein encoded by...

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  27. 09/06/2026, 13:25
    Genomic and Translational Medicine
    Poster

    INTRODUCTION
    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...

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  28. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Microphthalmia is a rare congenital eye defect characterised by a small, underdeveloped eye. Notably, microphthalmia exhibits genetic heterogeneity, in which mutations in different genes can result in a similar clinical phenotype. Although gene panel testing covering 147 genes is currently used by clinicians in the United Kingdom for the genetic diagnosis of microphthalmia, approximately 70%...

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  29. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Glaucoma is the leading cause of irreversible blindness. The pathophysiology is characterised by damage to retinal ganglion cells (RGCs), typically associated with raised intra-ocular pressure. An arising theory is that retinal macroglia can contribute to the progression of glaucoma when they become dysregulated. The project aims to better understand the glia and RGC interactions using RNA...

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  30. 09/06/2026, 13:25
    Ocular Development and Ageing
    Poster

    Purpose: Adult retinal pigment epithelial-19 (ARPE-19) cell line is widely used to study RPE physiology. Despite its common use, these cells show poor RPE-like characteristics including limited pigmentation and epithelial morphology. In the present study, we aimed to investigate the impact of the culture media on the morphology, pigmentation, and functional properties of the ARPE-19 cells,...

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  31. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Age-related macular degeneration (AMD) and Alzheimer’s disease (AD) are both severe age-related disorders that are the leading causes of vision loss and dementia in older adults, respectively. The diseases share similar risk profiles; ageing, smoking, and cardiovascular dysfunction, as well as similar pathologic processes; chronic inflammation, lysosome dysfunction and amyloid accumulation....

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  32. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder, most often caused by loss-of-function mutations in NPC1, resulting in pathological cholesterol and sphingolipid accumulation within late endosomes/lysosomes (LE/Lys). A recently-approved therapeutic, N-acetyl-L-leucine (NALL), was found to clear lysosomal lipids in NPC patient cells. NALL’s mechanism of action is not fully...

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  33. 09/06/2026, 13:25
    Visual Neuroscience
    Poster

    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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  34. 09/06/2026, 13:25
    Visual Neuroscience
    Poster

    Glaucoma is primarily an ocular disorder, yet damage to the optic nerve causes widespread structural and functional alterations in the visual brain. Prior fMRI work suggests that the visual cortex maintains its coarse-scale retinotopic organization in glaucoma, but shows a significant reduction in BOLD amplitude—an alteration that persists beyond predictions based on perimetry. However, BOLD...

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  35. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Age-related macular degeneration (AMD) is the primary cause of legal blindness in the developed world. However, AMD remains incompletely understood due to a complex interplay of genetic and environmental factors and currently lacks an effective cure. Central to disease progression is degeneration of the retinal pigment epithelium (RPE), which is essential for photoreceptor homeostasis....

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  36. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Introduction
    Retinitis pigmentosa (RP) affects approximately 1:4000 people, and 40% of RP cases remain genetically unsolved. We recently discovered complex structural variants (SVs) as the cause of RP17, and our lead hypothesis for the mechanism of disease is the RP17 SVs alter topological associated domain structure and result in ectopic contact of a retinal enhancer with GDPD1. To test...

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  37. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Purpose: Retinitis pigmentosa 54 (RP54) is a severe inherited retinal dystrophy caused by pathogenic variants in PCARE, which encodes the photoreceptor cilium actin regulator protein (PCARE), essential for the outer segment (OS) disc formation. To date, PCARE mutations have been reported in ~40 families, and no treatment exists. This study aims to define the pathogenic mechanisms...

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  38. 09/06/2026, 13:25
    Ocular Development and Ageing
    Poster

    The contact of glial cells with neurons is necessary for the development of the central nervous system. This process is facilitated by the distinctive morphologies of glial cells that allow precise spatial contact with neurons. Specifically, glial cells and neurons form functional compartments at the synapse where the glial projection ensheathes the pre- and post-synaptic terminals. Among...

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  39. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Background:
    Variants in the CRB1 gene cause severe inherited retinal dystrophies, including Leber congenital amaurosis, retinitis pigmentosa, cone-rod dystrophy and macular dystrophy. CRB1-retinopathies represent the 10th most common cause of early-onset vision loss in the UK, yet no clinically approved treatments currently exist. While AAV-mediated gene therapy has shown promise,...

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  40. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Excessive vascular permeability causes damaging tissue oedema in neovascular and inflammatory diseases and is, in part, driven by the vascular endothelial growth factor VEGF. Several molecular pathways have been implicated in VEGF-induced permeability signal transduction, including recruitment of a SRC family kinase by the VEGF-activated tyrosine kinase receptor VEGFR2 via the T-cell specific...

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  41. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Experimental Autoimmune Uveitis (EAU) is a murine model of non-infectious posterior uveitis characterised by inflammation of the posterior segment, including the retina and ON. In this study, we characterised microglial cells within the optic nerve (ON) at early (e; 2–3 weeks post-immunisation, wPI) and late (l; 4–6 wPI) EAU phases using IBA1 as a marker of microglia and P2RY12 as a marker of...

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  42. 09/06/2026, 13:25
    Visual Neuroscience
    Poster

    Scientific Abstract

    Background – Glaucoma affects more than 60 million people worldwide and is a leading cause of irreversible blindness. While elevated intraocular pressure (IOP) is the primary modifiable risk factor for glaucoma, degeneration of retinal ganglion cell (RGC) continues even after IOP is reduced.This continued apoptosis of RGC is a shared pathway in glaucoma, retinal...

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  43. 09/06/2026, 13:25
    Genomic and Translational Medicine
    Poster

    Disruption of genes essential to early eye development may lead to anophthalmia or microphthalmia (A/M) which are characterised by absent or underdeveloped eyes, respectively. A/M are clinically and genetically heterogeneous, with their aetiology still not fully understood. This results in a low molecular diagnostic rate (~20–30%), limiting clinical management and genetic counselling....

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  44. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    The retinal pigment epithelium (RPE) is essential to photoreceptor homeostasis and visual function. Daily RPE phagocytosis of photoreceptor outer segment tips (OS) is essential for photoreceptor renewal following photooxidative damage. Impaired degradation of phagocytosed OS in the RPE leads to accumulation of lipid-rich lipofuscin and RPE degeneration in the common vision-loss disease...

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  45. Jakub Kubiak (Institute of Ophthalmology)
    09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Inflammation of eye known as Uveitis is responsible for 15% of blindness in the western world, particularly affecting the working age population. Uveitis can be induced by infection but often is associated with autoimmunity that is not well understood. Inflammation occurring in the posterior region of the eye may cause blindness as it disrupts the delicate structure of the retina and damages...

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  46. 09/06/2026, 13:25
    Genomic and Translational Medicine
    Poster

    Background
    Expansion of an intronic CTG repeat within the TCF4 gene (termed CTG18.1) is the most common genetic risk factor for Fuchs endothelial corneal dystrophy (FECD), an age-related corneal-specific eye disease. PureTarget is an amplification-free targeted long-read sequencing approach that enables simultaneous assessment of TCF4 repeat size, sequence composition and 5mC...

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  47. 09/06/2026, 13:25
    Visual Neuroscience
    Poster

    Glaucoma is a progressive neuropathy causing retinal ganglion cell loss and visual field defects, with elevated intraocular pressure (IOP) as a major risk factor. Lowering IOP can slow glaucoma progression, but vision loss still occurs in some patients which led to the idea of neuroprotection in glaucoma , to preserve retinal ganglion cells and prevent apoptosis. This project investigates...

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  48. 09/06/2026, 13:25
    Disease Mechanisms
    Poster

    Neovascular age-related macular degeneration (nvAMD) is a leading cause of irreversible vision loss, with subretinal fibrosis representing a late and vision-threatening stage of disease progression. Although anti-VEGF therapies effectively suppress pathological neovascularisation and vascular leakage, they do not reliably prevent fibrotic scarring, and fibrosis can still develop despite...

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  49. 09/06/2026, 14:25
  50. Nihar Bhattacharyya (UCL Institute of Ophthalmology)
    09/06/2026, 14:30
    Genomic and Translational Medicine
    Talk

    Posterior polymorphous corneal dystrophy (PPCD) is a rare inherited corneal endothelial dystrophy caused by pathogenic variants in the transcription factor encoding genes OVOL2, GRHL2, and ZEB1, key regulators of epithelial-mesenchymal/mesenchymal-epithelial transition (EMT/MET) and cellular differentiation. In PPCD, reduced ZEB1 expression or ectopic expression of OVOL2 or GRHL2...

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  51. Georgia Milne
    09/06/2026, 14:45
    1
    Visual Neuroscience
    Talk

    Top-down signalling across the visual hierarchy is thought to support invariant perception, enabling object recognition despite changes in viewpoint, noise, and ambiguity. A central unresolved question is whether high-level prior knowledge shapes neural representations throughout the visual hierarchy, including early visual cortex, or whether its influence is largely confined to higher-order...

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  52. Alex He
    09/06/2026, 15:00
    Disease Mechanisms
    Talk

    Epithelial polarity is essential for retinal pigment epithelium (RPE) function, yet how polarity signalling regulates membrane trafficking remains poorly understood. We previously identified the apical polarity determinant Dbl3, a Cdc42-specific GEF, and its effector kinase MRCKβ as key regulators of apical actomyosin contractility. Here, we investigate whether this signalling axis coordinates...

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  53. Yuxuan Meng (UCL IoO and Morfields Eye Hospital)
    09/06/2026, 15:15
    Disease Mechanisms
    Flash 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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  54. Rose Avient
    09/06/2026, 15:18
    Disease Mechanisms
    Flash 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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  55. Roxana Lungu (University College London)
    09/06/2026, 15:21
    Ocular Development and Ageing
    Flash 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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  56. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Aim: To benchmark three deep learning-based retinal image registration methods RetinaRegNet, EyeLiner, and GeoFormer on the Fundus Image Registration (FIRE) dataset, comparing accuracy and computational efficiency using Mean Landmark Error (MLE) as the primary metric.
    Methods: The methods were evaluated under consistent conditions across three overlap-based categories: Class S (71...

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  57. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Spatial transcriptomics has become an essential tool in retinal research, yet preservation of both tissue architecture and RNA integrity remains technically challenging for post-mortem human samples. Difficulties in working with enucleated globes include retinal detachment from retinal pigment epithelium layer and retinal folding, which commonly occur during dissection due to the retina’s thin...

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  58. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    The retina relies on a dense vascular network to meet its high metabolic demand. Impaired vascular function and insufficient vessel growth are key features of several sight-threatening retinal diseases. Although anti-VEGF therapies are the current gold-standard treatment, a substantial proportion of patients respond poorly, and retinal ischemia remains unresolved due to vessel loss and...

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  59. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    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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  60. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Purpose

    Biallelic mutations in ARHGEF18 cause adult-onset retinal degeneration, but its retinal function is unknown. Arhgef18/p114RhoGEF is a RhoA exchange factor that regulates the mechanical stability of epithelial cell–cell adhesions. We therefore hypothesized that it supports retinal integrity by stabilizing cell–cell adhesion in specific retinal cell types. We investigated the...

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  61. 09/06/2026, 15:35
    Visual Neuroscience
    Poster

    Individual neurons in the primary visual cortex (V1) respond strongly to visual stimuli. The evoked responses of these neurons can be modulated by the behavioural state of the animal, such as increases in arousal and locomotion. This behavioural state-dependent cortical activity is regulated by neuromodulators, including the well-studied cholinergic and noradrenergic systems. Recent work...

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  62. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Cerebral blood vessels play a central role in supplying and regulating the disproportionately large amount of energy the brain requires for neurological function. They also protect the central nervous system by forming the blood-brain barrier (BBB), which shields neurons from pathogens and immune attack. This intimate functional interdependency between neurons and their associated blood...

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  63. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Introduction
    The commonest cause of failure in retinal reattachment surgery is the anomalous wound healing process called proliferative vitreoretinopathy (PVR). The development of measures to improve outcomes depends on an understanding of the cellular mechanisms involved.

    Methods
    We imaged retinectomy tissue from eyes of three patients with recurrent retinal detachment...

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  64. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Dbl3 is an apical guanine nucleotide exchange factor that promotes polarised Cdc42 activation to stimulate the apical effectors MRCKβ and the Par3/6/aPKC polarity complex, and, thereby, organisation of the apical actomyosin cytoskeleton. Its overexpression also rescues apical phagocytosis in diseased retinal pigment epithelial (RPE) cells. Polarisation of epithelia is accompanied by...

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  65. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Background RPE65-biallelic mutation-associated inherited retinal disease (RPE65‑IRD) presents with distinct retinal imaging features that evolve with disease progression, including whitish dots (WD), marble‑like pathology (ML), hypopigmented areas (HA), patchy chorioretinal atrophy (PCA), pigmented spicules (PS), and spotty irregular hyperpigmentation (SIHP). Quantification of these...

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  66. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Genome editing encompasses the targeted modification of DNA, enabling insertions, deletions, or substitutions at defined genomic loci. Conventional approaches, however, rely on the generation of a double-stranded break (DSB), which limits both their precision and efficiency.

    Prime editing, characterised as a "search-and-replace" genome editing technology, builds upon earlier CRISPR-based...

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  67. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Introduction: Retinitis Pigmentosa (RP) is one of the most common forms of inherited retinal dystrophy (IRD) and a leading cause of blindness in the working-age population. Disease progression can be exacerbated by environmental light exposure. Variants in the RHO gene encoding rhodopsin, the light-sensitive G protein-coupled receptor that initiates phototransduction, are a major cause of...

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  68. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Heterozygous changes within a mutation hotspot in RP1 are associated with autosomal dominant retinitis pigmentosa (adRP). Homozygous or compound heterozygous variations outside of this region are associated with autosomal-recessive retinitis pigmentosa (arRP). We have developed hiPSC-derived retinal organoid (RO) models of adRP-RP1 harbouring a common variant (p.Gln686*, KI) and an RP1 knock...

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  69. 09/06/2026, 15:35
    Genomic and Translational Medicine
    Poster

    Anophthalmia and microphthalmia (A/M) are rare developmental eye disorders characterised by the absence or reduced size of the eye, respectively. These conditions are genetically heterogeneous, with over 150 causative genes identified, yet much of their genetic basis remains unresolved, resulting in only 20-30% of affected individuals receiving a genetic diagnosis. This highlights a critical...

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  70. 09/06/2026, 15:35
    Genomic and Translational Medicine
    Poster

    Developmental glaucoma is a potentially blinding condition caused by raised intraocular pressure in babies and young children. It may be isolated or syndromic and is known to have a genetic basis, but in the UK the molecular diagnostic rate is less than 25%. Established causes of developmental glaucoma include pathogenic variants in CYP1B1, FOXC1, PAX6 and SLC4A11.

    The 100,000 Genomes...

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  71. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Microphthalmia, anophthalmia, and coloboma (MAC) are developmental eye disorders that remain one of the major causes of childhood blindness, affecting 1 to 4 in every 10,000 live births. While genetic heterogeneity of the MAC clinical spectrum is well recognised, many cases still lack an identifiable genetic diagnosis. Vitamin A deficiency has been highlighted as an environmental cause for MAC...

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  72. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Inflammation is a major driver of fibrosis. In the eye, Mitomycin-C (MMC) is used in the clinic to prevent scarring following surgery to manage glaucoma. High inflammation levels before surgery is a significant risk factor for the development of fibrosis and subsequent treatment failure. Furthermore, in the presence of local inflammation, MMC is less efficient in modulating scarring, despite...

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  73. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in adults over 60 years. It can be classified into two main forms: neovascular and dry AMD. The hallmarks of dry AMD are the accumulation of drusen (yellow deposits composed of lipids and protein) and the disruption of the retinal pigmented epithelium (RPE) cells and photoreceptors, leading to cell death. The...

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  74. 09/06/2026, 15:35
    Ocular Development and Ageing
    Poster

    Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in high-income countries. Although aging is the strongest known risk factor for AMD, the molecular mechanisms linking aging to disease pathogenesis remain poorly understood.
    The Information Theory of Aging proposes that aging is driven, in part, by a progressive loss of epigenetic information, in which DNA...

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  75. 09/06/2026, 15:35
    Ocular Development and Ageing
    Poster

    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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  76. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    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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  77. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Photoreceptors undergo continuous renewal to maintain visual function and retinal integrity. Each day, neighbouring retinal pigment epithelial (RPE) cells phagocytose the aged and damaged tips of photoreceptor outer segments (OS). Within the RPE, these components are degraded, while essential lipids and metabolites are recycled back to photoreceptors. This tightly regulated process supports...

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  78. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Guided by multiple signalling pathways, vascular endothelial cells (ECs) closely align with alveolar epithelium to mediate gas exchange in the lung. By contrast, the molecular and cellular mechanisms that organise airway vasculature are poorly understood. Here, we have immunostained mouse lungs to reveal that the vascular, bronchiolar smooth muscle and epithelial compartments of the airways...

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  79. 09/06/2026, 15:35
    Visual Neuroscience
    Poster

    Introduction
    A significant proportion of individuals with inherited retinal dystrophies (IRD) remain genetically unsolved. New technologies offer the opportunity to identify and characterise previously inaccessible areas of the genome that could harbour disease-causing variants. We investigated five families affected by autosomal dominant cone-rod dystrophy (adCRD); one family from the...

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  80. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Retinopathy of prematurity (ROP) is a leading cause of neonatal blindness, characterized by hyperoxia-induced vascular regression followed by pathological neovascularisation. Restoring physiological revascularisation while preventing aberrant neovascular tuft formation remains a major therapeutic challenge. Although anti-VEGF-A therapy is the current standard of care, frequent treatment...

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  81. 09/06/2026, 15:35
    Ocular Development and Ageing
    Poster

    In the field of ageing, protein aggregation and the downstream pathologies implicated in neurodegenerative diseases have been extensively studied in the brain. The retina, often termed the window to the brain, has been suggested to exhibit maladaptive processes similar to those seen in the brain, however, the extent to which aggregation-prone proteins accumulate in the healthy aged retina...

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  82. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    A specialised transcriptome is activated early during retinal development. Importantly, numerous splicing altering variants are associated with Inherited retinal diseases (IRD’s), like Leber Congenital Amaurosis (LCA), therefore, an improved understanding of retinal alternative splicing could help reveal underlying disease mechanisms. The inclusion of retina-specific exons is thought to be...

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  83. 09/06/2026, 15:35
    Visual Neuroscience
    Poster

    This study investigates the role of vasoactive intestinal peptide (VIP) interneurons in adult ocular dominance plasticity, focusing on how different components of VIP signalling contribute to cortical network reorganisation following monocular deprivation (MD). While plasticity is most prominent during the critical period, the adult visual cortex retains a limited but functionally relevant...

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  84. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Mitochondria play a vital role in the visual system, with functions that include ATP production, to meet the high energy demand of phototransduction in photoreceptors and support the retinal pigment epithelium role in the visual cycle. Other roles include maintenance of the redox balance and calcium/stress homeostasis as well as the organisation of these organelles being proposed to direct...

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  85. 09/06/2026, 15:35
    Disease Mechanisms
    Poster

    Birdshot chorioretinopathy (BCR) is a chronic, autoimmune form of posterior uveitis that targets the retina and can result in progressive visual deterioration or permanent blindness. It has a striking genetic association with the HLA A29 molecule, which plays a central role in disease susceptibility. As a result, BCR is widely regarded as a prototypical HLA linked autoimmune ocular...

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  86. 09/06/2026, 15:35
    Genomic and Translational Medicine
    Poster

    Inflammation and fibrosis, which contribute to epithelial and endothelial dysfunction, are common pathological features of ocular diseases such as eye infections and age-related macular degeneration (AMD). Guanine nucleotide exchange factor H1 (GEF-H1) activates RhoA signalling to promote inflammatory and fibrotic responses (PMID: 35681428). Under physiological conditions, GEF-H1 expression is...

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  87. Giulia De Rossi (University College London)
    09/06/2026, 16:30
    1
  88. Ah-Lai Law
  89. Andrea Martello (University College London)