Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics.

Taiyo Shijo,Aya Chubachi,Ryusaburo Mori,Hajime Onoe,Kenji Kashiwagi,Yumiko Machida,Wataru Kikushima,Atsushi Sugiyama,Yoichi Sakurada,Koji Tanaka,Seigo Yoneyama,Yu Wakatsuki,Akiko Miki

doi:10.3390/ijms22084074

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.

Highlights

Drusenoid pigment epithelial detachment (DPED) is characterized by a fairly wellcircumscribed elevation of the retinal pigment epithelium and a confluence of drusen
Prevalence of reticular pseudodrusen was highest in the retinal angiomatous proliferation (RAP) group among the four groups, followed by the rank order of the DPED, typical age-related macular degeneration (AMD), and polypoidal choroidal vasculopathy (PCV) groups
The risk allele frequency of ARMS2 A69S was significantly higher in the DPED group than in the typical AMD and PCV groups, there was no significant difference in the risk allele frequency of ARMS2 A69S between the DPED group and the RAP group

Summary

Introduction

Drusenoid pigment epithelial detachment (DPED) is characterized by a fairly wellcircumscribed elevation of the retinal pigment epithelium and a confluence of drusen. Casswell et al described DPED as part of the clinical spectrum of non-exudative age-related macular degeneration (AMD) in 1985 [1]. Roquet et al expanded on previous work and reported that progression to geographic atrophy (GA) or macular neovascularization (MNV) occurred within 2 years if the horizontal width of the DPED was greater than 2 disc diameters on initial presentation [3]. A report from the Age-related Eye Disease Study (AREDS) group found that the 5-year incidences of GA and MNV in the natural course of drusenoid PED were 19% and 23%, respectively [4]

Methods

Results

Conclusion