Extensive macular atrophy with pseudodrusen‐like appearance (EMAP), a new clinical entity

Abstract

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 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. In all patients, the scotopic and photopic ERG responses were reduced. Conclusion 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.