Journal
TRENDS IN GENETICS
Volume 38, Issue 4, Pages 312-316Publisher
CELL PRESS
DOI: 10.1016/j.tig.2022.01.003
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Funding
- National Health and Medical Research Council (NHMRC) of Australia Synergy grant [GNT1181010]
- Victorian State Government Operational
- NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS)
- NHMRC Senior Research Fellowship [GNT1102971, GNT1154389, GNT1194667]
- NHMRC Early Career Fellowship [GNT1157776]
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Reticular pseudodrusen (RPD) is a distinct phenotype associated with late-stage age-related macular degeneration (AMD), characterized by subretinal deposits. The genetic risk associations of RPD overlap with six established AMD-risk regions. Identifying the specific underlying genetic causes of RPD through adequate imaging methods can enhance our understanding of RPD pathophysiology.
Reticular pseudodrusen (RPD) are subretinal deposits that, when ob-served with age-related macular degeneration (AMD), form a dis-tinct phenotype, often associated with late-stage disease. To date, RPD genetic risk associations over-lap 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.
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