Genetics of reticular pseudodrusen in age-related macular degeneration

Samaneh Farashi; Brendan R E Ansell; Zhichao Wu; Carla J Abbott; Alice Pébay; Erica L Fletcher; Robyn H Guymer; Melanie Bahlo

doi:10.1016/j.tig.2022.01.003

Genetics of reticular pseudodrusen in age-related macular degeneration

Trends Genet. 2022 Apr;38(4):312-316. doi: 10.1016/j.tig.2022.01.003. Epub 2022 Jan 31.

Authors

Samaneh Farashi¹, Brendan R E Ansell¹, Zhichao Wu², Carla J Abbott², Alice Pébay³, Erica L Fletcher⁴, Robyn H Guymer², Melanie Bahlo⁵

Affiliations

¹ Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC 3052, Australia.
² Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia; Department of Surgery (Ophthalmology), The University of Melbourne, East Melbourne, VIC 3002, Australia.
³ Department of Anatomy and Physiology, The University of Melbourne, Parkville, VIC 3010, Australia; Royal Melbourne Hospital, Department of Surgery, The University of Melbourne, Parkville, VIC 3010, Australia.
⁴ Department of Anatomy and Physiology, The University of Melbourne, Parkville, VIC 3010, Australia.
⁵ Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC 3052, Australia. Electronic address: bahlo@wehi.edu.au.

PMID: 35093239
DOI: 10.1016/j.tig.2022.01.003

Abstract

Reticular pseudodrusen (RPD) are subretinal deposits that, when observed with age-related macular degeneration (AMD), form a distinct phenotype, often associated with late-stage disease. To date, RPD genetic risk associations overlap six well-established AMD-risk regions. Determining RPD-specific underlying genetic causes by using adequate imaging methods should improve our understanding of the pathophysiology of RPD.

Keywords: age-related macular degeneration; genetic risk factors; genome-wide association studies; multi-modal imaging; reticular pseudodrusen.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Macular Degeneration* / complications
Macular Degeneration* / genetics
Retinal Drusen* / complications
Retinal Drusen* / genetics
Risk Factors