[Clinical diagnostic prerequisites for adult vitelliform macular dystrophy].
BACKGROUND
Adult vitelliform macular dystrophy (AVMD) was first described in 1974 (Gass) but is still often misdiagnosed. Large studies using modern morphological and functional diagnostic methods do not exist.


METHODS
The records of 67 consecutive AVMD patients (1994-2003) were reviewed regarding color vision, perimetry, RPE autofluorescence, fluorescein angiography, EOG, ERG, and mfERG.


RESULTS
The mean age was 54.8 years. Symptoms, visual loss, color vision deficits, and visual field defects were highly variable. Autofluorescence was increased centrally in 77% of the eyes. In the ERG, the 30 Hz flicker response was reduced in 71% of the eyes. MfERGs showed a marked central amplitude reduction in 62% of the eyes and a continual normalization of the P1 amplitude towards the periphery.


CONCLUSIONS
The enhanced autofluorescence indicates increased lipofuscin in the vitelliform lesions. The electroretinographic recordings reveal a moderate generalized cone dysfunction with increased severity towards the fovea. Ophthalmoscopy, autofluorescence, and recording of mfERG are prerequisites to diagnose AVMD correctly.
Renner
A B
AB
Augenklinik, Campus Benjamin Franklin der Charité Universitätsmedizin, Berlin. a.renner@berlin.de
Tillack
H
H
Kraus
H
H
Kellner
U
U
Foerster
M H
MH
D000328:Adult; D000368:Aged; D003117:Color Vision Defects / Q000175:diagnosis; D003937:Diagnosis, Differential; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008062:Lipofuscin / Q000032:analysis; D008268:Macular Degeneration / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology; D042262:Retinoscopy; D012189:Retrospective Studies; D058609:Visual Field Tests
D008062:Lipofuscin