title: Central areolar choroidal dystrophy associated with dominantly inherited drusen.
abstract: OBJECTIVE
  To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen.
  
  
  METHODS
  The members of three unrelated families who demonstrated the rare combination of CACD and dominant drusen were clinically and angiographically investigated. In addition, DNA samples from the members of these families were screened for the Arg142Trp mutation in the peripherin/retinal degeneration slow (RDS) gene.
  
  
  RESULTS
  The severity of the CACD/dominant drusen maculopathy was age related and the expression of the phenotype varied. All affected individuals carried the Arg142Trp mutation in the peripherin/RDS gene. The clinical spectrum ranged from CACD without noticeable drusen in four individuals to the fully expressed phenotype of CACD with drusen in 14 individuals.
  
  
  CONCLUSIONS
  CACD macular dystrophy is associated with dominant drusen in most individuals carrying the Arg142Trp mutation in the peripherin/RDS gene in the three families described. There are no individuals with dominant drusen in the absence of the Arg142Trp mutation, suggesting that the Arg142Trp mutation is one of the factors predisposing to drusen development.
authors.affiliation: Department of Ophthalmology, University Medical Center Nijmegen, Nijmegen, Netherlands. B.Klevering@ohk.azn.nl
authors.forename: B Jeroen
authors.initials: BJ
authors.lastname: Klevering
authors.forename: Marc
authors.initials: M
authors.lastname: van Driel
authors.forename: August J M
authors.initials: AJ
authors.lastname: van Hogerwou
authors.forename: Dorien J R
authors.initials: DJ
authors.lastname: van De Pol
authors.forename: August F
authors.initials: AF
authors.lastname: Deutman
authors.forename: Alfred J L G
authors.initials: AJ
authors.lastname: Pinckers
authors.forename: Frans P M
authors.initials: FP
authors.lastname: Cremers
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
mesh_terms: D000328:Adult; D000368:Aged; D015862:Choroid Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D015593:Retinal Drusen / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins