title: Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
abstract: OBJECTIVE
  To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene.
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  The records of 16 patients with BMD and heterozygous VMD2 mutations (group 1) and 5 patients with Best-like lesions with no detectable disease-associated alterations in the VMD2 gene (group 2) were evaluated retrospectively.
  
  
  METHODS
  The data were reviewed regarding visual acuity (VA), color vision, perimetry, autofluorescence of the retinal pigment epithelium (RPE), fluorescein angiography, electro-oculography (EOG), and full-field electroretinography (ERG) and multifocal ERG (mfERG).
  
  
  METHODS
  VMD2 mutations, age at onset of BMD, RPE autofluorescence, EOG, ERG, and mfERG.
  
  
  RESULTS
  The mean age of the patients in group 1 was 47.1 years (range, 16.7-86.5), and age at onset varied between 5 and 58 years (median, 42.0). 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. Retinal pigment epithelium autofluorescence was increased corresponding to ophthalmoscopically visible yellow material, whereas it was decreased in the atrophic stage of BMD. Electro-oculography light rise was reduced in 18 of 19 eyes. Electroretinography amplitudes were normal in 3 patients and reduced in 6 patients. Multifocal ERG revealed in 10 of 20 eyes a central amplitude reduction and in 7 eyes a generalized one. There were no marked differences in clinical and functional findings between the patients in groups 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 VA lower (20/50 [range, 20/32-20/320]).
  
  
  CONCLUSIONS
  The onset of BMD is highly variable and occurred in the majority of patients after the second decade of life. Best-like lesions may develop in older patients without associated VMD2 mutations. Those manifestations may be related to a specific form of age-related macular degeneration. This article contains additional online-only material available at .
authors.affiliation: Augenklinik, Charité Campus Benjamin Franklin, Universitätsmedizin Berlin, Berlin, Germany. a.renner@berlin.de
authors.forename: Agnes B
authors.initials: AB
authors.lastname: Renner
authors.forename: Hilmar
authors.initials: H
authors.lastname: Tillack
authors.forename: Hannelore
authors.initials: H
authors.lastname: Kraus
authors.forename: Franziska
authors.initials: F
authors.lastname: Krämer
authors.forename: Nicole
authors.initials: N
authors.lastname: Mohr
authors.forename: Bernhard H F
authors.initials: BH
authors.lastname: Weber
authors.forename: Michael H
authors.initials: MH
authors.lastname: Foerster
authors.forename: Ulrich
authors.initials: U
authors.lastname: Kellner
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000075002:Bestrophins; D018118:Chloride Channels; D003118:Color Perception; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D014792:Visual Acuity; D058609:Visual Field Tests
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins