title: [Significance of ophthalmological imaging in common hereditary retinal diseases].
abstract: BACKGROUND
  Over the past years, a significant progress in genetic, functional and imaging diagnostics in hereditary retinal diseases has been made. Optical coherence tomography (OCT) as well as fundus autofluorescence (FAF) allow for high-resolution, non-invasive imaging - from various perspectives - of retinal and choroidal layers of the posterior fundus. Both techniques have gained more and more significance in the diagnosis of hereditary retinal diseases.
  
  
  METHODS
  Of all patients presented in this review, extensive family history was taken and a clinical ophthalmological examination performed. OCT scans as well as FAF images were acquired and compared to results of other functional and molecular genetic tests in the context of each disease.
  
  
  RESULTS
  The presented cases in this review addressing hereditary retinal diseases (Best's disease, Stargardt's disease, cone-rod dystrophy, retinitis pigmentosa, achromatopsia, and X-linked retinoschisis) show the significance of ophthalmic imaging (OCT + FAF) for a targeted diagnosis of hereditary retinal diseases.
  
  
  CONCLUSIONS
  The described imaging techniques (OCT + FAF) are becoming more and more important in the diagnosis of hereditary retinal diseases. Due to increasing availability of the devices, earlier detection of typical morphological changes not seen in clinical fundoscopy is feasible.
authors.affiliation: Augenklinik der Ludwig-Maximilians-Universität, Klinikum der Universität München, Germany. karsten.kortuem@med.uni-muenchen.de
authors.forename: K
authors.initials: K
authors.lastname: Kortüm
authors.forename: M
authors.initials: M
authors.lastname: Kernt
authors.forename: L
authors.initials: L
authors.lastname: Reznicek
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics; D012729:Sex Chromosome Aberrations; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics