title: Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
abstract: OBJECTIVE
  To investigate the association of reticular pseudodrusen (RPD) with Sorsby fundus dystrophy (SFD).
  
  
  METHODS
  Prospective, monocenter, cross-sectional case series.
  
  
  METHODS
  Sixteen patients of 4 unrelated families with SFD caused by mutations in TIMP3.
  
  
  METHODS
  All subjects underwent multimodal imaging including near-infrared (NIR) reflectance and fundus autofluorescence with a confocal scanning laser ophthalmoscope and spectral-domain optical coherence tomography (SD OCT).
  
  
  METHODS
  Prevalence, topographic distribution, and phenotype of RPD.
  
  
  RESULTS
  Mean age of the investigated patients was 56.8 years (range, 23-78 years). Reticular pseudodrusen were identified frequently in SFD patients in the sixth decade of life (5 of 7 [71%]) and were absent in younger (n = 3) or older (n = 6) patients. They were most abundant in the superior quadrant and spared the foveal region. Reticular pseudodrusen appeared as yellowish round to oval (dot subtype; n = 5) or confluent, wriggled (ribbon subtype; n = 3) lesions, sometimes forming irregular networks. Reticular pseudodrusen were hyporeflective on NIR reflectance and hypofluorescent on fundus autofluorescence imaging. They appeared as subretinal deposits on SD OCT imaging. Other lesions, such as peripheral pseudodrusen and soft drusen, were present less frequently.
  
  
  CONCLUSIONS
  Reticular pseudodrusen are a frequent finding in patients with SFD. Although SFD patients with RPD are younger, distribution and phenotype of RPD are similar to those observed in patients with age-related macular degeneration. The association of RPD with SFD implicates a role of Bruch's membrane, the Bruch's membrane-retinal pigment epithelium interface, or both in the pathogenesis of RPD.
authors.affiliation: Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Gliem
authors.affiliation: Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
authors.forename: Philipp L
authors.initials: PL
authors.lastname: Müller
authors.affiliation: Institute for Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Mangold
authors.affiliation: Center for Human Genetics, Bioscientia, Ingelheim, Germany; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
authors.forename: Hanno J
authors.initials: HJ
authors.lastname: Bolz
authors.affiliation: Institute for Human Genetics, University of Regensburg, Regensburg, Germany.
authors.forename: Heidi
authors.initials: H
authors.lastname: Stöhr
authors.affiliation: Institute for Human Genetics, University of Regensburg, Regensburg, Germany.
authors.forename: Bernhard H F
authors.initials: BH
authors.lastname: Weber
authors.affiliation: Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
authors.forename: Frank G
authors.initials: FG
authors.lastname: Holz
authors.affiliation: Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany. Electronic address: peter.issa@ukb.uni-bonn.de.
authors.forename: Peter
authors.initials: P
authors.lastname: Charbel Issa
mesh_terms: D000328:Adult; D000368:Aged; D059327:Brachydactyly / Q000150:complications* / Q000235:genetics; D016570:Bruch Membrane / Q000473:pathology*; D003103:Coloboma / Q000150:complications* / Q000235:genetics; D003430:Cross-Sectional Studies; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D064847:Multimodal Imaging; D009154:Mutation; D009887:Ophthalmoscopy; D061848:Optical Imaging; D015995:Prevalence; D011446:Prospective Studies; D015593:Retinal Drusen / Q000175:diagnosis / Q000209:etiology*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D019717:Tissue Inhibitor of Metalloproteinase-3 / Q000235:genetics; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: C088390:TIMP3 protein, human; D019717:Tissue Inhibitor of Metalloproteinase-3