title: [Optical coherence tomography in Malattia Leventinese].
abstract: BACKGROUND
  Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data.
  
  
  METHODS
  Six patients underwent ophthalmological examination, angiography and OCT. Diagnosis was confirmed by genetic analysis of the R345W mutation. A histopathological study of an ML donor eye was performed.
  
  
  RESULTS
  OCT revealed a diffuse RPE-choriocapillaris thickening with nodular features in the macular and parapapillary areas. The protrusions reached as far as the outer nuclear layer.
  
  
  CONCLUSIONS
  OCT is a non-invasive technique that provides a cross-sectional picture of the retina comparable to a histological section. In ML, OCT revealed a diffuse alteration of the RPE-Bruch's membrane complex. The macular and parapapillary nodular lesions are the tomographic equivalents of drusen and Forni's verrucosities.
authors.affiliation: Hôpital Ophtalmique Jules Gonin, Université de Lausanne, Suisse.
authors.forename: M-C
authors.initials: MC
authors.lastname: Gaillard
authors.forename: T J
authors.initials: TJ
authors.lastname: Wolfensberger
authors.forename: S
authors.initials: S
authors.lastname: Uffer
authors.forename: I
authors.initials: I
authors.lastname: Mantel
authors.forename: J-A
authors.initials: JA
authors.lastname: Pournaras
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000293:Adolescent; D000328:Adult; D000792:Angiography; D002869:Chromosome Aberrations; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008266:Macula Lutea / Q000098:blood supply / Q000473:pathology; D008875:Middle Aged; D009887:Ophthalmoscopy; D009898:Optic Disk / Q000098:blood supply / Q000473:pathology; D015594:Optic Disk Drusen / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000098:blood supply / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D012680:Sensitivity and Specificity; D041623:Tomography, Optical Coherence
chemical_list: C119630:EFEMP1 protein, human; D016326:Extracellular Matrix Proteins