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. 2021 Apr 15;22(8):4074.
doi: 10.3390/ijms22084074.

Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics

Taiyo Shijo  1 , Yoichi Sakurada  1 , Koji Tanaka  2 , Akiko Miki  3 , Seigo Yoneyama  1 , Yumiko Machida  2 , Aya Chubachi  3 , Yu Wakatsuki  2 , Atsushi Sugiyama  1 , Hajime Onoe  2 , Wataru Kikushima  1 , Ryusaburo Mori  2 , Kenji Kashiwagi  1
Affiliations

Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics

Taiyo Shijo et al. Int J Mol Sci. .

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.

Keywords: ARMS2; CFH; drusenoid pigment epithelial detachment; reticular pseudodrusen.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
A 75-year-old male patient with drusenoid pigment epithelial detachment. (A) In the right eye, aggregation of confluent drusen was observed in the macula. (B) The aggregation of drusen in the left eye was spared from the central macula. (C) A horizontal optical coherence tomography (OCT) scan showing a large drusenoid pigment epithelial detachment with 307 µm height and 3943 µm width in the right eye. (D) A horizontal OCT scan showing retinal pigment elevation corresponding to a druse in the left eye. (E) There were no characteristic signs of reticular pseudodrusen on fundus autofluorescence. (F) There were no characteristic signs of reticular pseudodrusen on near-infrared reflectance.
Figure 2
Figure 2
An 83-year-old female patient with drusenoid pigment epithelial detachment showing large subretinal hemorrhage in the contralateral eye. (A) In the right eye, drusen aggregation was observed in the macula. (B) In the left eye, the exudation, mainly subretinal hemorrhage, was seen in the macula. (C) Dot-type reticular pseudodrusen is seen in the magnified image of the macula in the right eye. (D) Hyporeflectance corresponding to the reticular pseudodrusen was mainly observed above the macula in the near-infrared reflectance. (E) Spectral-domain optical coherence tomography (SD-OCT) showed drusenoid pigment epithelial detachment with 113 µm height and width of 1872 µm in the macula. Red arrows indicate subretinal drusenoid deposits in the retinal pigment epithelium.
See this image and copyright information in PMC

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