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. PATIENTS AND 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. CONCLUSION: 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.
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. PATIENTS AND METHODS: The records of 67 consecutive AVMDpatients (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. CONCLUSION: 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.