Extensive Macular Atrophy with Pseudodrusen in a Japanese Patient Evaluated by Wide-Field OCTA

Abstract

Extensive macular atrophy with pseudodrusen (EMAP) is a relatively newly proposed clinical entity that was first reported in 2009. Although no definitive diagnostic criteria have been defined, characteristic findings can distinguish it from other diseases, especially dry age-related macular dystrophy (AMD). Herein, we present the case of a patient with EMAP who underwent a comprehensive ophthalmic examination and whole-exome sequencing (WES). A 72-year-old Japanese man complained of progressive visual impairment in his right eye and nyctalopia. Ophthalmic examination revealed that the best-corrected visual acuity (BCVA) in decimal units was 0.08 on the right and 0.8 on the left. Fundoscopy and fundus autofluorescence (FAF) revealed well-demarcated symmetrical macular atrophy, with a vertical axis larger than the horizontal axis, which reached the vascular arcade inferiorly and exceeded it superiorly. Pseudodrusen were widespread throughout the retina in both eyes. Paving-stone degeneration was not observed in the extreme periphery of either eye. Seven months later, his left BCVA decreased to 0.3 without major changes on multimodal imaging. Based on the above findings, we diagnosed EMAP. Wide-field optical coherence tomography angiography (OCTA) showed no significant changes in the retinal vessels, but the density of choroidal vessels was reduced in the degenerated areas. We thought that this finding suggests that EMAP originates between the deep retina and choroid. WES did not reveal any candidate mutations in known pathogenic genes. To the best of our knowledge, this is the first report of a Japanese patient with EMAP, and no data for analysis of wide-field OCTA or equatorial OCT images of EMAP cases have been found in previous reports. EMAP is not well recognized in Asia and may be incorrectly diagnosed as dry-type AMD. EMAP should be included in the differential diagnosis of dry AMD, and this may lead to more Asians being diagnosed with EMAP in the future.

Keywords

• extensive macular atrophy with pseudodrusen
• multimodal imaging
• whole-exome sequencing
• wide-field octa
• age-related macular degeneration