Farashi Samaneh, Ansell Brendan R E, Wu Zhichao, Abbott Carla J, Pébay Alice, Fletcher Erica L, Guymer Robyn H, Bahlo Melanie
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.
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.
Trends Genet. 2022 Apr;38(4):312-316. doi: 10.1016/j.tig.2022.01.003. Epub 2022 Jan 31.
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.
网状假性玻璃膜疣（RPD）是视网膜下沉积物，在与年龄相关性黄斑变性（AMD）相关时，会形成一种独特的表型，通常与疾病晚期相关。迄今为止，RPD的遗传风险关联与六个已明确的AMD风险区域重叠。通过使用适当的成像方法确定RPD特定的潜在遗传原因，应能增进我们对RPD病理生理学的理解。
