PMID- 26077580
OWN - NLM
STAT- MEDLINE
DCOM- 20151016
LR  - 20150727
IS  - 1549-4713 (Electronic)
IS  - 0161-6420 (Linking)
VI  - 122
IP  - 8
DP  - 2015 Aug
TI  - Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
PG  - 1555-62
LID - S0161-6420(15)00418-2 [pii]
LID - 10.1016/j.ophtha.2015.04.035 [doi]
AB  - PURPOSE: To investigate the association of reticular pseudodrusen (RPD) with 
      Sorsby fundus dystrophy (SFD). DESIGN: Prospective, monocenter, cross-sectional 
      case series. SUBJECTS: 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). MAIN OUTCOME MEASURES: 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.
CI  - Copyright (c) 2015 American Academy of Ophthalmology. Published by Elsevier Inc. 
      All rights reserved.
FAU - Gliem, Martin
AU  - Gliem M
AD  - Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
FAU - Muller, Philipp L
AU  - Muller PL
AD  - Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
FAU - Mangold, Elisabeth
AU  - Mangold E
AD  - Institute for Human Genetics, University of Bonn, Bonn, Germany.
FAU - Bolz, Hanno J
AU  - Bolz HJ
AD  - Center for Human Genetics, Bioscientia, Ingelheim, Germany; Institute of Human 
      Genetics, University Hospital of Cologne, Cologne, Germany.
FAU - Stohr, Heidi
AU  - Stohr H
AD  - Institute for Human Genetics, University of Regensburg, Regensburg, Germany.
FAU - Weber, Bernhard H F
AU  - Weber BH
AD  - Institute for Human Genetics, University of Regensburg, Regensburg, Germany.
FAU - Holz, Frank G
AU  - Holz FG
AD  - Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany.
FAU - Charbel Issa, Peter
AU  - Charbel Issa P
AD  - Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany. 
      Electronic address: peter.issa@ukb.uni-bonn.de.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150612
PL  - United States
TA  - Ophthalmology
JT  - Ophthalmology
JID - 7802443
RN  - 0 (TIMP3 protein, human)
RN  - 0 (Tissue Inhibitor of Metalloproteinase-3)
RN  - Coloboma of macula type B brachydactyly
SB  - IM
MH  - Adult
MH  - Aged
MH  - Brachydactyly/*complications/genetics
MH  - Bruch Membrane/*pathology
MH  - Coloboma/*complications/genetics
MH  - Cross-Sectional Studies
MH  - Female
MH  - Fluorescein Angiography
MH  - Humans
MH  - Male
MH  - Microscopy, Confocal
MH  - Middle Aged
MH  - Multimodal Imaging
MH  - Mutation
MH  - Ophthalmoscopy
MH  - Optical Imaging
MH  - Prevalence
MH  - Prospective Studies
MH  - Retinal Drusen/diagnosis/*etiology
MH  - Retinal Pigment Epithelium/*pathology
MH  - Tissue Inhibitor of Metalloproteinase-3/genetics
MH  - Tomography, Optical Coherence
MH  - Young Adult
EDAT- 2015/06/17 06:00
MHDA- 2015/10/17 06:00
CRDT- 2015/06/17 06:00
PHST- 2015/01/22 00:00 [received]
PHST- 2015/04/24 00:00 [revised]
PHST- 2015/04/28 00:00 [accepted]
PHST- 2015/06/17 06:00 [entrez]
PHST- 2015/06/17 06:00 [pubmed]
PHST- 2015/10/17 06:00 [medline]
AID - S0161-6420(15)00418-2 [pii]
AID - 10.1016/j.ophtha.2015.04.035 [doi]
PST - ppublish
SO  - Ophthalmology. 2015 Aug;122(8):1555-62. doi: 10.1016/j.ophtha.2015.04.035. Epub 
      2015 Jun 12.