A Pathway to Translation: Uncovering Novel Causes, Genetic Associations and Potential Intervention Strategies for Age Related Macular Degeneration

Aging of the retinal pigment epithelium

Erica L Fletcher, Jessica YW Ma, Josephine HC Wong, Una Greferath, Ophelia V Ehrlich, Andrew I Jobling, Kirstan A Vessey

2026-01-01

The retinal pigment epithelium (RPE) plays a critical role in maintaining normal vision. It is a single layer of cuboidal cells th..

Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration

H Kumar, Y Bagdasarova, S Song, DG Hickey, AC Cohn, M Okada, RP Finger, JH Terheyden, RE Hogg, PH Gabrielle, L Arnould, M Jannaud, X Hadoux, P van Wijngaarden, CJ Abbott, LAB Hodgson, R Schwartz, A Tufail, EY Chew, CS Lee

2026-01-01

Background: Reticular pseudodrusen (RPD) signify a critical phenotype driving vision loss in age-related macular degeneration (AMD..

Ground Truth Reliability and Clinical Generalisability in Deep Learning for Reticular Pseudodrusen—Response

H Kumar, Y Bagdasarova, RH Guymer, AY Lee, Z Wu

2026-01-01

The contribution of extracellular ATP to retinal function and potentiating retinal degenerations

EL Fletcher, AI Jobling, U Greferath, KA Vessey

2026-01-01

There are myriad retinal functions that are mediated by purines. P2X receptors, especially P2X7 receptors, are expressed by photor..

HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement

S Farashi, CJ Abbott, BRE Ansell, Z Wu, L Altay, E Arnon, L Arnould, Y Bagdasarova, K Balaskas, FK Chen, E Chew, I Chowers, S Clarke, C Cukras, C Delcourt, MN Delyfer, AI den Hollander, S Fauser, RP Finger, PH Gabrielle

2025-12-01

Age-related macular degeneration (AMD) is a multifactorial retinal disease with a large genetic risk contribution. Reticular pseud..

Multi-omic spatial effects on high-resolution AI-derived retinal thickness

VE Jackson, Y Wu, R Bonelli, JP Owen, LW Scott, S Farashi, Y Kihara, ML Gantner, C Egan, KM Williams, BRE Ansell, A Tufail, AY Lee, M Bahlo

2025-12-01

Retinal thickness is a marker of retinal health and more broadly, is seen as a promising biomarker for many systemic diseases. Ret..

Nocturnal hypoxia and age-related macular degeneration

A Chaudhary, CJ Abbott, Z Wu, WY Fang, PR Raj, M Naughton, WJ Heriot, RH Guymer

2024-12-01

Background: Nocturnal hypoxia is common, under-diagnosed and is found in the same demographic at risk of age-related macular degen..

Reticular Pseudodrusen: Impact of Their Presence and Extent on Local Rod Function in Age-Related Macular Degeneration

H Kumar, RH Guymer, LAB Hodgson, X Hadoux, M Jannaud, P van Wijngaarden, CD Luu, Z Wu

2024-11-01

Purpose: To understand the spatial relationship between local rod-mediated visual function and reticular pseudodrusen (RPD) in eye..

Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement.

Samaneh Farashi, Carla J Abbott, Brendan Re Ansell, Zhichao Wu, Lebriz Altay, Ella Arnon, Louis Arnould, Yelena Bagdasarova, Konstantinos Balaskas, Fred K Chen, Emily Chew, Itay Chowers, Steven Clarke, Catherine Cukras, Cécile Delcourt, Marie-Noëlle Delyfer, Anneke I den Hollander, Sascha Fauser, Robert P Finger, Pierre-Henry Gabrielle

2024-09-28

Age-related macular degeneration (AMD) is a multifactorial retinal disease with a large genetic risk contribution. Reticular pseud..

Decreased Circulating Very Small Low-Density Lipoprotein is Likely Causal for Age-Related Macular Degeneration

S Farashi, R Bonelli, VE Jackson, BRE Ansell, RH Guymer, M Bahlo

2024-09-01

Objective: Abnormal changes in metabolite levels in serum or plasma have been highlighted in several studies in age-related macula..

A semi-automated pipeline for quantifying drusen-like deposits in human induced pluripotent stem cell-derived retinal pigment epithelium cells

Jenna Hall, Maciej Daniszewski, Shane Cheung, Kalyan Shobhana, Himeesh Kumar, Helena H Liang, Henry Beetham, Ellie Cho, Carla Abbott, Alex W Hewitt, Kaylene J Simpson, Robyn H Guymer, Daniel Paull, Alice Pebay, Grace E Lidgerwood

2024-06-01

Age-Related Macular Degeneration (AMD) is a highly prevalent form of retinal disease amongst Western communities over 50 years of ..

Pharmaceutical therapies targeting autophagy for the treatment of age-related macular degeneration

KA Vessey, AI Jobling, U Greferath, EL Fletcher

2024-06-01

Age-related macular degeneration (AMD) is a major cause of irreversible vision loss in the elderly. Although new therapies have re..

Drusen and Other Retinal Findings in People With IgA Glomerulonephritis

U Greferath, E Fletcher, J Savige, HG Mack

2024-01-01

Purpose: Retinal drusen have been described in people with IgA nephropathy. We examined the frequency of drusen in IgA nephropathy..

Inter-night variability of in-home, overnight pulse oximetry screening in an asymptomatic older adult population

Attiqa Chaudhary, Carla J Abbott, Zhichao Wu, Wendy Y Fang, Palaniraj R Raj, Matthew T Naughton, Robyn H Guymer

2024-01-01

Purpose: Obstructive sleep apnoea (OSA) is common, yet often undiagnosed. Self-administered, overnight pulse oximetry (OPO) could ..

A village in a dish model system for population-scale hiPSC studies

DR Neavin, AM Steinmann, N Farbehi, HS Chiu, MS Daniszewski, H Arora, Y Bermudez, C Moutinho, CL Chan, M Bax, M Tyebally, V Gnanasambandapillai, CE Lam, U Nguyen, D Hernández, GE Lidgerwood, RM Graham, AW Hewitt, A Pébay, NJ Palpant

2023-12-01

The mechanisms by which DNA alleles contribute to disease risk, drug response, and other human phenotypes are highly context-speci..

Reticular Pseudodrusen: Interreader Agreement of Evaluation on OCT Imaging in Age-Related Macular Degeneration

Z Wu, S Schmitz-Valckenberg, BA Blodi, FG Holz, GJ Jaffe, S Liakopoulos, SR Sadda, M Bonse, T Brown, J Choong, B Clifton, G Corradetti, F Corvi, AC Dieu, V Dooling, JW Pak, M Saßmannshausen, C Skalak, S Thiele, RH Guymer

2023-12-01

Purpose: To determine the interreader agreement for reticular pseudodrusen (RPD) assessment on combined infrared reflectance (IR) ..

Aging induces cell loss and a decline in phagosome processing in the mouse retinal pigment epithelium

JYW Ma, U Greferath, JHC Wong, LJ Fothergill, AI Jobling, KA Vessey, EL Fletcher

2023-08-01

Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss and dysfunction in the retinal pigment epith..

Role of sleep-disordered breathing in age-related macular degeneration

WY Fang, P Rama Raj, Z Wu, C Abbott, CD Luu, M Naughton, RH Guymer

2023-05-09

Aims To examine the association between obstructive sleep apnoea (OSA) and age-related macular degeneration (AMD), and the subphen..

Natural History of the Relative Ellipsoid Zone Reflectivity in Age-Related Macular Degeneration

S Thiele, Z Wu, B Isselmann, M Pfau, RH Guymer, CD Luu

2022-12-01

Purpose: Relative ellipsoid zone reflectivity (rEZR) has been reported to be reduced in intermediate age-related macular degenerat..

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration

A Senabouth, M Daniszewski, GE Lidgerwood, HH Liang, D Hernández, M Mirzaei, SN Keenan, R Zhang, X Han, D Neavin, L Rooney, MIG Lopez Sanchez, L Gulluyan, JA Paulo, L Clarke, LS Kearns, V Gnanasambandapillai, CL Chan, U Nguyen, AM Steinmann

2022-12-01

There are currently no treatments for geographic atrophy, the advanced form of age-related macular degeneration. Hence, innovative..

Exploring the pathogenesis of age-related macular degeneration: A review of the interplay between retinal pigment epithelium dysfunction and the innate immune system

JHC Wong, JYW Ma, AI Jobling, A Brandli, U Greferath, EL Fletcher, KA Vessey

2022-11-03

Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in the older population. Classical hallmarks..

Impact of Reticular Pseudodrusen on Choriocapillaris Flow Deficits and Choroidal Structure on Optical Coherence Tomography Angiography

Z Wu, X Zhou, Z Chu, G Gregori, RK Wang, PJ Rosenfeld, RH Guymer

2022-11-01

PURPOSE. To examine the impact of reticular pseudodrusen (RPD) on choriocapillaris blood flow and choroidal structure in individua..

Human pluripotent stem cells for the modelling of retinal pigment epithelium homeostasis and disease: A review

JC Hall, D Paull, A Pébay, GE Lidgerwood

2022-08-01

Human pluripotent stem cells (hPSCs), which include induced pluripotent stem cells and embryonic stem cells, are powerful tools fo..

Reticular Pseudodrusen on the Risk of Progression in Intermediate Age-Related Macular Degeneration

Z Wu, H Kumar, LAB Hodgson, RH Guymer

2022-07-01

PURPOSE: To examine the association between reticular pseudodrusen (RPD) and progression to late age-related macular degeneration ..

Exploring Reticular Pseudodrusen Extent and Impact on Mesopic Visual Sensitivity in Intermediate Age-Related Macular Degeneration

H Kumar, RH Guymer, LAB Hodgson, X Hadoux, Z Wu

2022-06-01

PURPOSE. To explore the impact of the extent of reticular pseudodrusen (RPD) on mesopic visual sensitivity in individuals with int..

Reticular pseudodrusen: A critical phenotype in age-related macular degeneration

Z Wu, EL Fletcher, H Kumar, U Greferath, RH Guymer

2022-05-01

Reticular pseudodrusen (RPD), or subretinal drusenoid deposits (SDD), refer to distinct lesions that occur in the subretinal space..

Genetics of reticular pseudodrusen in age-related macular degeneration

Samaneh Farashi, Brendan RE Ansell, Zhichao Wu, Carla J Abbott, Alice Pebay, Erica L Fletcher, Robyn H Guymer, Melanie Bahlo

2022-04-01

Reticular pseudodrusen (RPD) are subretinal deposits and when observed with age-related macular degeneration (AMD) form a distinct..

A clinical perspective on the expanding role of artificial intelligence in age-related macular degeneration

H Kumar, KL Goh, RH Guymer, Z Wu

2022-01-01

In recent years, there has been intense development of artificial intelligence (AI) techniques, which have the potential to improv..

Treatments targeting autophagy ameliorate the age-related macular degeneration phenotype in mice lacking APOE (apolipoprotein E)

KA Vessey, AI Jobling, MX Tran, AY Wang, U Greferath, EL Fletcher

2022-01-01

Age-related macular degeneration (AMD) is a leading cause of vision loss with recent evidence indicating an important role for mac..

Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time

GE Lidgerwood, A Senabouth, CJA Smith-Anttila, V Gnanasambandapillai, DC Kaczorowski, D Amann-Zalcenstein, EL Fletcher, SH Naik, AW Hewitt, JE Powell, A Pébay

2021-04-01

Human pluripotent stem cell (hPSC)-derived progenies are immature versions of cells, presenting a potential limitation to the accu..