Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP) spectrum: progression kinetics and late-stage findings

Abstract

Purpose : To describe the late-stage findings and clinical outcome of extensive macular atrophy with pseudodrusen (EMAP).

Methods : Seventy-eight subjects affected with EMAP were included in this retrospective cohort study. The diagnosis of EMAP did not rely on an age criterion, therefore voluntarily including patients that could receive the overlapping diagnosis of diffuse-trickling geographic atrophy (DTGA).
Best-corrected-visual acuity using the ETDRS chart, full-field electroretinography (ERG), kinetic perimetry, optical coherence tomography (OCT) and fundus autofluorescence (FAF) data were gathered from all patients. Time-to-event curves for foveal involvement and atrophy enlargement beyond the 30° and 55° field of view were designed.

Results : Seventy-eight patients (156 eyes) were included, of whom 58 could be screened for the TIMP3 and C1QTNF5 genes, with no pathogenic variants identified. Twenty-eight (35.9%) were males. At the most recent visit, mean age 70.9 ± 5.2 years, mean BCVA was 28.9 ± 23.5 ETDRS letters. Large central scotomas were detected in all eyes, and in 22.7% of the cases either visual field restriction or diffuse sensitivity loss were present. Major OCT findings included Bruch focal breaks (25.4%) and large dehiscences (16.9%) and hyperreflective pyramidal structures (HPS) (30%). Incidence rates were 22.8/100-eye-year, 12.0/100-eye-year and 6.6/100-eye-year for foveal involvement, posterior pole atrophy, and mid-periphery-involving atrophy, respectively. These projections were not influenced by the age of onset.

Conclusions : The EMAP spectrum leads to a rapid and severe decline of the visual function beyond just visual acuity loss and its advanced stage is characterized by distinctive imaging patterns, including Bruch’s membrane degeneration and HPS.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.

 

Multimodal imaging of advanced EMAP shows diffuse retinal involvement with confluent pavingstone-like degeneration merging into extensive macular atrophy. OCT reveals large hyperreflective pyramidal structures (HPS) within the atrophic fovea.

 

Time-to-event curves for loss of foveal sparing and atrophy expansion beyond 30° and 55° field of view autofluorescence images (median: ~ 3.4, 4.7 and 7.4 years, respectively). P values for the log-rank test demonstrate no statistically significant differences between right and left eyes.