Morphology and functional characteristics in adult vitelliform macular dystrophy.
OBJECTIVE
Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD).


METHODS
The records of 61 consecutive AVMD patients (inclusion criterion: vitelliform lesion smaller than one disk diameter at least in one eye) were evaluated retrospectively regarding visual acuity, color vision, perimetry, retinal pigment epithelium (RPE) autofluorescence, fluorescein angiography, electro-oculography, full-field and multifocal electroretinography, and molecular genetic evaluation of the VMD2 and RDS/peripherin genes.


RESULTS
The mean age of subjects was 54.6 years. Visual loss was variable (median, 0.6; range, 1.25-0.05). Color vision and visual field were normal in about half of the patients but presented defects with high variability in the remaining patients. Autofluorescence findings showed increased fluorescence within the foveal yellow lesion in 76%. In the majority of eyes, the amplitude of the 30 Hz flicker response of the full-field electroretinogram (72%) and the central P1 amplitude of the multifocal electroretinogram (63%) were reduced. Mutational analyses revealed a potentially disease-associated mutation in the RDS/peripherin gene in one patient.


CONCLUSIONS
AVMD is characterized by late onset, slow progression, good prognosis, and high variability of morphologic and functional abnormalities resulting frequently in misdiagnosis. Autofluorescence findings indicate lipofuscin accumulation in the yellow lesion. Electroretinography revealed a generalized cone system dysfunction with increasing severity toward the fovea.
Renner
Agnes B
AB
Augenklinik, Campus Benjamin Franklin, Charité Universitätsmedizin Berlin, Berlin, Germany.
Tillack
Hilmar
H
Kraus
Hannelore
H
Kohl
Susanne
S
Wissinger
Bernd
B
Mohr
Nicole
N
Weber
Bernhard H F
BH
Kellner
Ulrich
U
Foerster
Michael H
MH
D000328:Adult; D000368:Aged; D000075002:Bestrophins; D018118:Chloride Channels; D003119:Color Perception Tests; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005453:Fluorescence; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008062:Lipofuscin / Q000378:metabolism; D008266:Macula Lutea / Q000378:metabolism / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D064531:Peripherins; D010857:Pigment Epithelium of Eye / Q000378:metabolism / Q000473:pathology*; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism / Q000503:physiopathology*; D012189:Retrospective Studies; D014792:Visual Acuity; D058609:Visual Field Tests
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008062:Lipofuscin; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins