title: [Stargardt's disease and its intrafamilial variability].
abstract: BACKGROUND
  Because of its considerable differential diagnosis and a wide range of phenotypic variation, Stargardt's disease (juvenile macular dystrophy) can cause diagnostic problems. Moreover, ample variability in course and outcome of the disease has been described.
  
  
  METHODS
  The diagnosis and variable course of Stargardt's disease of three affected siblings have been documented by clinical manifestation, fluorescein angiography and Ganzfeld-ERG including the ISCEV standard protocol.
  
  
  RESULTS
  All three siblings presented with retinal abnormalities. However, only the youngest brother revealed symptoms for more than 10 y in terms of reduced visual acuity. The two elder ones had preserved central vision. Classical findings of contact lens biomicroscopy, fluorescein angiography and changes in the Ganzfeld-ERG confirmed the diagnosis of Stargardt's disease.
  
  
  CONCLUSIONS
  The diagnosis of Stargardt's disease can be made as late as in the 7th decade of life. Tremendous variability can occur in course and outcome even within the same family. Therefore, visual prognosis is uncertain and has to be made with caution. In most cases the diagnosis can be established with the above mentioned methods.
authors.affiliation: Universitäts-Augenklinik, Zürich, Schweiz.
authors.forename: N
authors.initials: N
authors.lastname: Lansel
authors.forename: G
authors.initials: G
authors.lastname: Niemeyer
authors.forename: A
authors.initials: A
authors.lastname: Thölen
mesh_terms: D000367:Age Factors; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008853:Microscopy / Q000379:methods; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D014792:Visual Acuity
vernacular_title: Morbus Stargardt mit intrafamiliärer Variabilität.