MORPHOLOGY AND FUNCTIONAL CHARACTERISTICS IN ADULT VITELLIFORM MACULAR DYSTROPHY
| Autor: | Nicole Mohr, H. Tillack, Ulrich Kellner, Bernhard H. F. Weber, Agnes B. Renner, Bernd Wissinger, Susanne Kohl, Michael H. Foerster, Hannelore Kraus |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Visual acuity genetic structures DNA Mutational Analysis Peripherins Visual Acuity Nerve Tissue Proteins Fluorescence Lipofuscin Lesion Macular Degeneration Intermediate Filament Proteins Chloride Channels Electroretinography medicine Humans Macula Lutea Color perception test Bestrophins Fluorescein Angiography Eye Proteins Pigment Epithelium of Eye Aged Retrospective Studies Color Perception Tests Membrane Glycoproteins Retinal pigment epithelium medicine.diagnostic_test business.industry Peripherin General Medicine Middle Aged Fluorescein angiography eye diseases Visual field Electrooculography Ophthalmology medicine.anatomical_structure Retinal Cone Photoreceptor Cells Visual Field Tests Female sense organs medicine.symptom business |
| Zdroj: | Retina. 24:929-939 |
| ISSN: | 0275-004X |
| DOI: | 10.1097/00006982-200412000-00014 |
| Popis: | Purpose: 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. Conclusion: 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. |
| Databáze: | OpenAIRE |
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