Challenges in studying geographic atrophy (GA) age-related macular degeneration: the potential of a new mouse model with GA-like features

Abstract

Loss of central vision critical to everyday activities such as reading, face-recognition and driving due to damage in the central retina (the macula) is the leading cause of irreversible blindness amongst adults in the developed world. This condition, termed age-related macular degeneration (AMD), is a complex, chronic degenerative disease driven by a combination of genetic and lifestyle risk factors. Early signs of retinal changes in people as young as 30-40 years have been reported, although these individuals appear to be asymptomatic. However, by the age of 65 the disease is present in ~3% of individuals, which increases dramatically to affect 1/3 of individuals by the eighth decade of life. Early to intermediate AMD is estimated to affect ~150 million individuals globally, with another 10 million individuals suffering from end-stage, sight-threatening forms. These terminal stages are broadly grouped into dry (GA: geographic atrophy) or wet (CNV: choroidal neovascular) AMD (Sarks et al., 1988; Bird et al., 2014), with similar frequencies reported in patients. Recent advances in identifying genetic risk factors, including our discoveries in this field, indicate an initial shared pathology before progressing to aforementioned late-stage phenotypes. Currently, GA patients have no effective treatment, which may in part be due to the lack of good in-vivo models for GA studies. Here, we summarise our new findings that describe an altogether new mouse model with GA-like features which shows progressive outer retinal pathology (Ibbett et al., 2019) that can be used to gain novel insights into GA and potentially as a tool for drug development.

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Identifiers

ORCID for J. Arjuna Ratnayaka: orcid.org/0000-0002-1027-6938

ORCID for Andrew Lotery: orcid.org/0000-0001-5541-4305

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