May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Best Vitelliform Macular Dystrophy With and Without VMD2 Gene Mutations – A Morphological and Functional Evaluation
Author Affiliations & Notes
  • A.B. Renner
    Ophthalmology, Charité, Campus Benjamin Franklin, Berlin, Germany
  • U. Kellner
    Ophthalmology, Charité, Campus Benjamin Franklin, Berlin, Germany
    RetinaScience, Bonn, Germany
  • H. Tillack
    Ophthalmology, Charité, Campus Benjamin Franklin, Berlin, Germany
  • F. Kraemer
    Institute of Human Genetics, University Wuerzburg, Wuerzburg, Germany
  • B.H. F. Weber
    Institute of Human Genetics, University Wuerzburg, Wuerzburg, Germany
    Institute of Human Genetics, University Regensburg, Regensburg, Germany
  • M.H. Foerster
    Ophthalmology, Charité, Campus Benjamin Franklin, Berlin, Germany
  • Footnotes
    Commercial Relationships  A.B. Renner, None; U. Kellner, None; H. Tillack, None; F. Kraemer, None; B.H.F. Weber, None; M.H. Foerster, None.
  • Footnotes
    Support  Supported in part by grants from the Deutsche Forschungsgemeinschaft (We1259/13–2 and Ke442/11–1,2)
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 555. doi:
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      A.B. Renner, U. Kellner, H. Tillack, F. Kraemer, B.H. F. Weber, M.H. Foerster; Best Vitelliform Macular Dystrophy With and Without VMD2 Gene Mutations – A Morphological and Functional Evaluation . Invest. Ophthalmol. Vis. Sci. 2005;46(13):555.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: Morphological and functional evaluation of Best vitelliform macular dystrophy (BMD) and correlation with the mutation status in the VMD2 gene. Methods: The records of 19 patients with BMD and heterozygous VMD2 mutations (group 1) and of 5 patients with Best–like lesions with no detectable disease–associated alterations in the VMD2 gene (group 2) were evaluated retrospectively. The data were reviewed regarding visual acuity, color vision, perimetry, autofluorescence of the retinal pigment epithelium (RPE), fluorescein angiography, electro–oculography (EOG), full–field and multifocal electroretinography (ERG, mfERG according to ISCEV standards). Results: The mean age of the patients in group 1 was 46.3 years (range 16.7–86.5, median 52.9) and the age at onset varied between 5 and 58 years (median 38.0). Visual acuity ranged between 20/16 and 20/400 (median 20/40). No association existed between the specific nature of the VMD2 mutation and disease onset or expressivity. RPE autofluorescence was increased corresponding to ophthalmoscopically visible yellow material while it was decreased in the atrophic stage of BMD. EOG light rise was reduced in 18/19 eyes. ERG amplitudes were normal in 6 patients and reduced in 6 patients. In 10/20 eyes mfERGs revealed a central and in 7/20 eyes a generalized amplitude reduction. 5 patients of group 1 were followed over a period of 1.4 to 8.4 years (mean 5.0, median 6.2). Extent of functional and fundus changes where strikingly variable. Almost no changes of the central lesion were detected in the patient with the longest follow–up while dramatically changes were found in the patient with the shortest follow–up. There were no marked differences in clinical and functional findings between the patients in group 1 and 2, except that the mean age of the patients in group 2 was higher (64.0 years, range 45.7–80.6) and the median visual acuity lower (20/50, range 20/32–20/320). The patients of group 2 were analyzed in the peripherin/RDS gene but did not harbour detectable disease–associated alterations. Conclusions: Although BMD is often considered as a juvenile macular dystrophy, the onset of BMD is highly variable and occurred in the majority of patients after the second decade of life. Best–like lesions strongly reminiscent of BMD features may develop in older patients without associated VMD2 or peripherin/RDS mutations.

Keywords: retinal degenerations: hereditary • candidate gene analysis • gene screening 
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