Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics

Abstract

Few studies report drusenoid pigment epithelial detachment (DPED) in Asians. In this multicenter study, we report the clinical and genetic characteristics of 76 patients with DPED, and, for comparison, 861 patients with exudative age-related macular degeneration (AMD) were included. On the initial presentation, the mean best-corrected visual acuity was 0.087 ± 0.17 (logMAR unit), and mean DPED height and width were 210 ± 132 and 1633 ± 1114 µm, respectively. Fifty-one (67%) patients showed macular neovascularization in the contralateral eye. The risk allele frequency of both ARMS2 A69S and CFH I62V was significantly higher in DPED than in typical AMD and polypoidal choroidal vasculopathy (PCV) (ARMS2 A69S risk allele frequency: DPED 77% vs. typical AMD 66% vs. PCV 57%, CFH I62V risk allele frequency: DPED 87% vs. typical AMD 73% vs. PCV 73%), although the risk allele frequency of both genes was similar between the DPED group and retinal angiomatous proliferation (RAP) group (ARMS2 A69S: p = 0.32, CFH I62V, p = 0.11). The prevalence of reticular pseudodrusen (RPD) was highest in RAP (60%), followed by DPED (22%), typical AMD (20%), and PCV (2%). Although the prevalence of RPD differs between DPED and RAP, these entities share a similar genetic background in terms of ARMS2 and CFH genes.

Combined pulses of light and sound in the retina with nutraceuticals may enhance the recovery of foveal holes

“…Within these circuitries both stimuli stimulate autophagy just like occurring in the specific sensory apparatus. Within the retina, although some studies reported that autophagy mostly acts between the retinal pigment epithelium (RPE) and the choroid Bruch's membrane (Blasiak et al, 2014;Kaarniranta et al, 2020;Sethna et al, 2021), other studies indicate the relevance of autophagy between the RPE and photoreceptors (Pinelli et al, 2020c;Kim et al, 2021;Shijo et al, 2021;Wu et al, 2021). The occurrence of retinal degeneration is postulated to derive from focal subcellular autophagy impairment at various retinal levels (Pinelli et al, 2020c), and it may serves to distinguish between different phenotypes of retinal degeneration (Pinelli et al, 2020c;Kim et al, 2021;Shijo et al, 2021;Wu et al, 2021).…”

“…Within the retina, although some studies reported that autophagy mostly acts between the retinal pigment epithelium (RPE) and the choroid Bruch's membrane (Blasiak et al, 2014;Kaarniranta et al, 2020;Sethna et al, 2021), other studies indicate the relevance of autophagy between the RPE and photoreceptors (Pinelli et al, 2020c;Kim et al, 2021;Shijo et al, 2021;Wu et al, 2021). The occurrence of retinal degeneration is postulated to derive from focal subcellular autophagy impairment at various retinal levels (Pinelli et al, 2020c), and it may serves to distinguish between different phenotypes of retinal degeneration (Pinelli et al, 2020c;Kim et al, 2021;Shijo et al, 2021;Wu et al, 2021). In fact, according to the hypothesis of an exosome-dependent trafficking of misfolded proteins towards different poles of the retina, as inferred by pre-clinical studies (Pinelli et al, 2020c;2021a;2021b), various autophagy-mediated pathogenic mechanisms within the retina may be implicated.…”

“…Similarly, the RPE domain towards photoreceptors is affected as well by the autophagy status. In fact, abnormal deposits between the RPE and photoreceptors may be induced by altered autophagy (Pinelli et al, 2020c;Wu et al, 2021;Kim et al, 2021;Shijo et al, 2021). In this way, even focal alterations in the autophagy machinery affecting subcellular domain may play a role in conditioning retinal integrity (Pinelli et al, 2020c).…”

Incidence and risk of advanced age-related macular degeneration in eyes with drusenoid pigment epithelial detachment

“…The inclusion criterion in this study was follow-up period equal to or more than 1 month. Drusenoid PED was defined as an aggregation of drusen more than 500 µm in width and 100 µm in height on SD-OCT, as previously described 22 , 23 . If both eyes were eligible, the right eye was included in this study.…”

Incidence and risk of advanced age-related macular degeneration in eyes with drusenoid pigment epithelial detachment

“…Drusenoid PED was de ned as an aggregation of drusen more than 500µm in width and 100µm in height on SD-OCT, as previously described. 19,20 If both eyes were eligible, the right eye was included in this study. Drusenoid PED width was de ned as the drusenoid PED maximum horizontal length at the fovea through the horizontal scan of SD-OCT, and drusenoid PED height was de ned as the distance between the bottom of the RPE and Bruch's membrane at the fovea through horizontal SD-OCT scans.…”