Journal article

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

TRENDS IN GENETICS | CELL PRESS | Published : 2022

Abstract

Reticular pseudodrusen (RPD) are subretinal deposits and 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 utilising adequate imaging methods should improve our understanding of the pathophysiology of RPD.

Grants

Awarded by National Health and Medical Research Council (NHMRC) of Australia Synergy grant


Awarded by NHMRC Senior Research Fellowship


Awarded by NHMRC Early Career Fellowship


Funding Acknowledgements

This work was supported by a National Health and Medical Research Council (NHMRC) of Australia Synergy grant to R.G., E.F., M.B., A.P., B.R.E.A., and Z.W. (GNT1181010) ; this work was also made possible through the Victorian State Government Operational Infrastructure Support and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS) . An NHMRC Senior Research Fellowship supports M.B. (GNT1102971) , A.P. (GNT1154389) and R.G. (GNT1194667) . B.R.E.A. was supported by an NHMRC Early Career Fellowship (GNT1157776) .