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  • Title: Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
    Author: Hamel CP, Meunier I, Arndt C, Ben Salah S, Lopez S, Bazalgette C, Bazalgette C, Zanlonghi X, Arnaud B, Defoort-Dellhemmes S, Puech B.
    Journal: Am J Ophthalmol; 2009 Apr; 147(4):609-20. PubMed ID: 19181301.
    Abstract:
    PURPOSE: To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients. DESIGN: Clinical, electrophysiologic, and molecular retrospective study. METHODS: The database of an outpatient clinic unit for genetic sensory diseases was screened for patients older than 40 years with uncharacterized macular dystrophy. Patients with extensive macular atrophy and pseudodrusen-like appearance were included. RESULTS: Eighteen patients of 45 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 throughout the posterior pole and the peripheral retina. In the extreme periphery, paving stone lesions were located mostly 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 2 were legally blind at the end of the follow-up. Unlike age-related macular degeneration, in none of these patients did choroidal neovascularization develop. In all patients, the scotopic and photopic electroretinography responses were reduced. CONCLUSIONS: Extensive macular atrophy with pseudodrusen should be considered as a possible pattern of severe macular dystrophy occurring in the middle-aged adult.
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