Extensive Macular Atrophy with Pseudodrusen-like appearance: Progression Kinetics and Late-Stage Findings

Ophthalmology. 2024 Oct;131(10):1175-1184. doi: 10.1016/j.ophtha.2024.04.001. Epub 2024 Apr 6.

Abstract

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

Design: Retrospective cohort study.

Participants: Seventy-eight patients (156 eyes) affected by EMAP.

Methods: We collected data on best-corrected visual acuity, kinetic perimetry, OCT, short-wavelength autofluorescence, and near-infrared autofluorescence findings. Genetic testing for the TIMP3 and C1QTNF5 genes was performed via Sanger sequencing for 58 patients, with no pathogenic variants identified.

Main outcome measures: The primary outcomes were best-corrected visual acuity at the last examination, visual field at the last examination, and incidence rates and time-to-event curves for blindness with the United States Social Security Administration and World Health Organization (WHO) criteria, foveal involvement, and atrophy enlargement beyond the 30° and 55° field of view. Imaging findings at the last examination were secondary outcomes.

Results: At the most recent visit, mean age was 70.9 ± 5.2 years. Using United States criteria, 58.1% of the patients were blind, and 25.8% were blind according to WHO criteria. All eyes showed large central scotomas, which were associated with visual field constriction in 22.2% of eyes. We detected focal openings or large dehiscences of Bruch's membrane (BM) in 25.4% of eyes. Near-infrared autofluorescence showed increased visibility of the choroidal vessels beyond the atrophy in 87.2% of eyes. The incidence rates for blindness were 3.95 per 100 patient-years with United States criteria and 1.54 per 100 patient-years according to WHO criteria. The incidence rates were 22.8 per 100 eye-years for foveal involvement, 12.0 per 100 eye-years for atrophy enlargement beyond 30°, and 6.6 per 100 eye-years for atrophy enlargement beyond 55°. The estimates were not influenced by the age at onset.

Conclusions: We identified characteristic imaging findings, including BM ruptures, in elder patients with EMAP and calculated incidence rates for different functional and anatomic outcomes.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Keywords: Bruch’s membrane; EMAP; Extensive macular atrophy with pseudodrusen; Macular atrophy; Multimodal imaging.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Atrophy
  • Blindness / diagnosis
  • Blindness / etiology
  • Blindness / physiopathology
  • Disease Progression*
  • Female
  • Fluorescein Angiography* / methods
  • Humans
  • Macula Lutea / pathology
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / physiopathology
  • Male
  • Middle Aged
  • Retinal Drusen* / diagnosis
  • Retinal Drusen* / genetics
  • Retrospective Studies
  • Scotoma / diagnosis
  • Scotoma / physiopathology
  • Tissue Inhibitor of Metalloproteinase-3 / genetics
  • Tissue Inhibitor of Metalloproteinase-3 / metabolism
  • Tomography, Optical Coherence* / methods
  • Visual Acuity* / physiology
  • Visual Field Tests
  • Visual Fields* / physiology

Substances

  • Tissue Inhibitor of Metalloproteinase-3
  • TIMP3 protein, human