Prognostics of age-related macular degeneration

Authors

Francesco Cinque

Keywords:

Age-related macular degeneration, Trial design, Endpoints, Retina, Genetic risk factors

Synopsis

Age-related macular degeneration (AMD) is the most common cause of irreversible blindness among the elderly. The main focus of the thesis is the elucidation of (novel) predictive, clinical, and genetic markers for progression of AMD. In Research Chapter One (RC1) a possible relationship between choroidal thinning and frequent treatment with anti-vascular endothelial agents in neovascular AMD was not found. This is important as growing concerns over choroidal thinning inducing macular atrophy could lead to undertreatment. In RC2 carriers of rare, protein changing variants in CFH and CFI were found to progress faster compared to a reference cohort, thus highlighting the potential role of these patients in proof-of concept studies for drug development. In RC3, conversion risk of non-exudative macular neovascularisations (NEMNV) – a particular type of vascular structure associated with increased risk of sight-threatening exudation – was found to relate to age of first eye exudation. These findings raise important questions regarding research methodology as our association is most likely the result of the relatively late detection of NEMNV rather than any features of the NEMNV themselves. In RC4 mesopic microperimetry (MMP) – a promising retinal function test which may be used as an endpoint was statistically analysed to yield to most efficient way to measure – and predict progression. Lastly, in RC5, again MMP’s output was variously calculated and compared in terms of real world vision-dependent function. Finally, the general thesis discussion aims to explicate and contextualise the previous findings in the current climate of AI and ongoing drug development.

Cover image

Published

April 15, 2026

Details about the available publication format: PDF

PDF

ISBN-13 (15)

9789465152165