Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity

Am J Ophthalmol. 2009 Apr;147(4):609-20. doi: 10.1016/j.ajo.2008.10.022. Epub 2009 Feb 1.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Atrophy / complications
  • Blindness / etiology*
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Humans
  • Intraocular Pressure
  • Macula Lutea / pathology*
  • Male
  • Middle Aged
  • Retinal Drusen / complications*
  • Retinal Drusen / diagnosis
  • Retrospective Studies
  • Scotoma / diagnosis
  • Scotoma / etiology
  • Tomography, Optical Coherence
  • Visual Acuity
  • Visual Field Tests
  • Visual Fields