Extensive Macular Atrophy With Pseudodrusen Complicated by Macular Neovascularization in a Japanese Patient: A Case Report

TL;DR

This case report describes a rare Japanese patient with a retinal condition called EMAP complicated by macular neovascularization and its successful treatment.

Contribution

This is the first reported case of EMAP with macular neovascularization in an Asian patient.

Findings

The patient exhibited vertically oriented macular atrophy, pseudodrusen, and retinal pigment epithelium-Bruch's membrane separation.

Anti-vascular endothelial growth factor therapy stabilized the macular neovascularization and preserved vision.

No pathogenic genetic variants were found associated with inherited retinal disease or AMD.

Abstract

Recognizing the characteristic vertically oriented atrophy, pseudodrusen distribution, and retinal pigment epithelium-Bruch's membrane separation is critical for distinguishing extensive macular atrophy with a pseudodrusen-like appearance (EMAP) from age-related macular degeneration (AMD). Early identification of neovascular complications and prompt anti-vascular endothelial growth factor therapy can stabilize macular neovascularization (MNV) and help preserve residual vision in this rare retinal disorder. To the best of our knowledge, this is the first reported case of EMAP with MNV in an Asian patient. This report aims to describe the clinical presentation, imaging features, genetic findings, and therapeutic response in a Japanese woman with EMAP complicated by MNV, which is rarely reported in Asia. A 63-year-old woman presented with decades-long nyctalopia and progressive visual loss. Fundus examination and fundus autofluorescence showed vertically oriented macular atrophy, widespread pseudodrusen, and peripheral paving-stone degeneration. Optical coherence tomography (OCT) demonstrated diffuse separation of the retinal pigment epithelium from Bruch's membrane. These findings lead to the diagnosis of EMAP. Fluorescein angiography, indocyanine green angiography, and OCT angiography revealed type 1 MNV in the left eye. Whole-exome sequencing detected no pathogenic variants associated with inherited retinal disease or AMD. The neovascular lesion was treated with intravitreal aflibercept on a treat-and-extend regimen; after seven injections, the MNV became inactive.

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