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

Ophthalmology 2024 April 6
PURPOSE: To describe the clinical outcome and late-stage findings of Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP).

STUDY DESIGN: Retrospective cohort study.

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

METHODS: We collected data on best-corrected visual acuity (BCVA), kinetic perimetry, optical coherence tomography (OCT), short-wavelength autofluorescence (SW-AF) and near-infrared autofluorescence (NIR-AF). Genetic testing for the TIMP3 and C1QTNF5 genes was performed via Sanger sequencing for 58 subjects, with no pathogenic variants identified.

MAIN OUTCOME MEASURES: BCVA, visual field, and imaging findings at the last examination. Incidence rates and time-to-event curves for blindness with the United States Social Security Administration (US-SSA) and World Health Organization (WHO) criteria, foveal involvement, and atrophy enlargement beyond the 30° and 55° field of view.

RESULTS: At the most recent visit, the mean age was 70.9 ± 5.2 years. 58.1% of the patients were blind with the US criteria, and 25.8% according to the WHO. All eyes had large central scotomas, in 22.7% of the cases associated with visual field constriction. We detected focal openings or large dehiscences of the Bruch's membrane in 25.4% of the eyes. NIR-AF shows increased visibility of the choroidal vessels beyond the atrophy in 87.2% of the eyes. The incidence rates for blindness were 3.95/100-subjects-year with the US criteria and 1.54/100-subjects-year according to the WHO. The incidence rates were 22.8/100-eye-year for foveal involvement, 12.0/100-eye-year for atrophy enlargement beyond the 30° and 6.6/100-eye-year for atrophy enlargement beyond 55°. The estimates were not influenced by the age of onset.

CONCLUSION: We identified characteristic imaging findings, including Bruch's membrane ruptures, in elder EMAP patients and calculated incidence rates for different functional and anatomical outcomes.

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