title: Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
abstract: OBJECTIVE
  To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients.
  
  
  METHODS
  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.
authors.affiliation: Centre Hospitalier Régional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France. christian.hamel@inserm.fr
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hamel
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meunier
authors.forename: Carl
authors.initials: C
authors.lastname: Arndt
authors.forename: Safouane
authors.initials: S
authors.lastname: Ben Salah
authors.forename: Séverine
authors.initials: S
authors.lastname: Lopez
authors.forename: Christian
authors.initials: C
authors.lastname: Bazalgette
authors.forename: Cécile
authors.initials: C
authors.lastname: Bazalgette
authors.forename: Xavier
authors.initials: X
authors.lastname: Zanlonghi
authors.forename: Bernard
authors.initials: B
authors.lastname: Arnaud
authors.forename: Sabine
authors.initials: S
authors.lastname: Defoort-Dellhemmes
authors.forename: Bernard
authors.initials: B
authors.lastname: Puech
mesh_terms: D017668:Age of Onset; D001284:Atrophy / Q000150:complications; D001766:Blindness / Q000209:etiology*; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007429:Intraocular Pressure; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D015593:Retinal Drusen / Q000150:complications* / Q000175:diagnosis; D012189:Retrospective Studies; D012607:Scotoma / Q000175:diagnosis / Q000209:etiology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D058609:Visual Field Tests; D014794:Visual Fields