Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP), a new clinical entity

Abstract

Purpose: : To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudo-drusen appearance in middle age patients.

Methods: : The database of the outpatient clinic for genetic sensory diseases was screened for patients over 40 years with uncharacterized macular dystrophy. Patients with extensive macular atrophy and pseudodrusen-like appearance were included. Clinical investigations included visual acuity, eye examination, color fundus imaging, OCT scan, autofluorescence, Farnsworth 15-HUE color testing, Goldman perimetry and ISCEV full-field ERG.

Results: : Eighteen patients of 45 screened records (40%) matched the inclusion criteria. Bilateral polycyclic well-delineated chorioretinal atrophy extending to the temporal vascular arcades, with a larger vertical axis and without sparing of the fovea featured the macular lesion. The pseudodrusen-like appearance was widespread thoughout the posterior pole and the peripheral retina. In the extreme periphery, paving stone lesions were mostly located in the inferior quadrants. In contrast to age-related macular degeneration, a rapid progression of the atrophy was observed with an early involvement of the foveal zone, thus leading to a severe visual loss. All the patients except two were legally blind at the end of the follow-up. Unlike age-related degeneration, none of these patients developed choroidal neovascularisation. In all patients, the scotopic and photopic ERG responses were reduced.

Conclusions: : The cause of Extensive Macular Atrophy with Pseudodrusen (EMAP) remains unknown. Extensive Macular Atrophy with pseudodrusen (EMAP) should be considered as a possible pattern of severe macular dystrophy occurring in the middle-aged adult.

Keywords: degenerations/dystrophies • macula/fovea • retina