Genetics of reticular pseudodrusen in age-related macular degeneration.

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

Journal

Trends in genetics : TIG
ISSN: 0168-9525
Titre abrégé: Trends Genet
Pays: England
ID NLM: 8507085

Informations de publication

Date de publication:
04 2022
Historique:
received: 02 11 2021
revised: 20 12 2021
accepted: 05 01 2022
pubmed: 31 1 2022
medline: 6 5 2022
entrez: 30 1 2022
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 35093239
pii: S0168-9525(22)00003-8
doi: 10.1016/j.tig.2022.01.003
pii:
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

312-316

Informations de copyright

Copyright © 2022 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests None declared by authors.

Auteurs

Samaneh Farashi (S)

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.

Brendan R E Ansell (BRE)

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.

Zhichao Wu (Z)

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.

Carla J Abbott (CJ)

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.

Alice Pébay (A)

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.

Erica L Fletcher (EL)

Department of Anatomy and Physiology, The University of Melbourne, Parkville, VIC 3010, Australia.

Robyn H Guymer (RH)

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.

Melanie Bahlo (M)

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.

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Classifications MeSH