Is extensive macular atrophy with pseudodrusen a variant of age-related macular degeneration? Insights from the first multiethnic, multicentre US cohort.

Abstract

Objective: To characterize the long-term clinical and multimodal imaging (MMI) features of extensive macular atrophy with pseudodrusen (EMAP) in a US cohort.

Design: Multicentre retrospective case series.

Participants: Patients diagnosed with EMAP between 2015 and 2025.

Methods: Clinical records and MMI-including colour fundus photography, fundus autofluorescence, OCT, and OCT angiography-were reviewed at baseline and last follow-up.

Results: Fifteen patients (30 eyes) were included, with longitudinal MMI analysis available in 11 patients (22 eyes). Median age at referral was 72 years (range, 40-76 years), and median baseline visual acuity was 0.3 logMAR (20/40). All eyes demonstrated diffuse pseudodrusen-like deposits and retinal pigment epithelium-Bruch membrane separation consistent with basal laminar deposits. Four eyes (13.3%) showed no macular atrophy at baseline, suggesting an early disease stage (stage 0). Peripheral retinal degeneration was identified in approximately 50% of eyes, and macular neovascularization developed in 23% including 2 eyes (6.7%) with type 3 macular neovascularization. Median visual acuity declined to 0.54 logMAR (20/70) at final follow-up (P < 0.001), and 27% met criteria for U.S. legal blindness. Disease progression was observed in 59% after a median follow-up of 40 months (range, 4-114 months).

Conclusions: EMAP may represent a high-risk variant of age-related macular degeneration characterized by rapid progression to geographic atrophy. Critical diagnostic features include pseudodrusen-like deposits and basal laminar deposits, whereas a vertical pattern of atrophy represents the typical outcome. Atrophy may be absent in early disease stages. Genetic validation and consideration for inclusion in future atrophic AMD interventional trials are warranted.