Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
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.
Hamel
Christian P
CP
Centre Hospitalier Régional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France. christian.hamel@inserm.fr
Meunier
Isabelle
I
Arndt
Carl
C
Ben Salah
Safouane
S
Lopez
Séverine
S
Bazalgette
Christian
C
Bazalgette
Cécile
C
Zanlonghi
Xavier
X
Arnaud
Bernard
B
Defoort-Dellhemmes
Sabine
S
Puech
Bernard
B
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