PMID- 24246574
OWN - NLM
STAT- MEDLINE
DCOM- 20140424
LR  - 20220309
IS  - 1879-1891 (Electronic)
IS  - 0002-9394 (Linking)
VI  - 157
IP  - 3
DP  - 2014 Mar
TI  - Cone abnormalities in fundus albipunctatus associated with RDH5 mutations 
      assessed using adaptive optics scanning laser ophthalmoscopy.
PG  - 558-70.e1-4
LID - S0002-9394(13)00731-9 [pii]
LID - 10.1016/j.ajo.2013.10.021 [doi]
AB  - PURPOSE: To assess macular photoreceptor abnormalities in eyes with fundus 
      albipunctatus with RDH5 mutation by using adaptive optics scanning laser 
      ophthalmoscopy (AO-SLO). DESIGN: Prospective cross-sectional study. METHODS: Ten 
      eyes with fundus albipunctatus and 11 normal eyes underwent a full ophthalmologic 
      examination, microperimetry, spectral-domain optical coherence tomography (SD 
      OCT), and imaging with a prototype AO-SLO system. Cone density and spatial 
      organization of the cone mosaic were assessed using AO-SLO images. Statistical 
      analysis was done using data from right eyes of all patients. RESULTS: Four 
      patients had the same mutation in RDH5 (c.928delC/insGAAG), and 1 patient had a 
      novel mutation in RDH5 (c.718delG). AO-SLO revealed the presence of small patchy 
      dark areas representing cone loss in the macula of all eyes with fundus 
      albipunctatus, including eyes for which fundus photographs showed no macular 
      abnormalities and SD OCT did not reveal any visible defects in the photoreceptor 
      layer. Compared to normal eyes, eyes with fundus albipunctatus demonstrated 
      significantly lower cone density in areas at 0.5 mm from the center of the fovea 
      (P = .020). At 0.5 mm and 1.0 mm from the center of the fovea, eyes with fundus 
      albipunctatus showed fewer cones with 6 neighbors (P = .041 and P = .006). AO-SLO 
      revealed hyperreflective mosaics surrounded by hyporeflective rings in areas 
      corresponding to the retinal flecks. CONCLUSIONS: Macular cone density is lower 
      and the regularity of the macular cone mosaic spatial arrangement is disrupted in 
      eyes with fundus albipunctatus. AO-SLO imaging is a sensitive quantitative tool 
      for detecting photoreceptor abnormalities in eyes with fundus albipunctatus.
CI  - Copyright (c) 2014 Elsevier Inc. All rights reserved.
FAU - Makiyama, Yukiko
AU  - Makiyama Y
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan.
FAU - Ooto, Sotaro
AU  - Ooto S
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan. Electronic address: ohoto@kuhp.kyoto-u.ac.jp.
FAU - Hangai, Masanori
AU  - Hangai M
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan.
FAU - Ogino, Ken
AU  - Ogino K
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan.
FAU - Gotoh, Norimoto
AU  - Gotoh N
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan.
FAU - Oishi, Akio
AU  - Oishi A
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan.
FAU - Yoshimura, Nagahisa
AU  - Yoshimura N
AD  - Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School 
      of Medicine, Kyoto, Japan.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131116
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
RN  - 0 (DNA Primers)
RN  - EC 1.1.- (Alcohol Oxidoreductases)
RN  - EC 1.1.1.105 (retinol dehydrogenase 5)
RN  - Fundus Albipunctatus
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alcohol Oxidoreductases/*genetics
MH  - Cross-Sectional Studies
MH  - DNA Primers/chemistry
MH  - Electroretinography
MH  - Female
MH  - Fluorescein Angiography
MH  - Fovea Centralis
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - *Ophthalmoscopy
MH  - Optics and Photonics
MH  - Polymerase Chain Reaction
MH  - Prospective Studies
MH  - Retinal Cone Photoreceptor Cells/*pathology
MH  - Retinal Diseases/diagnosis/*genetics
MH  - Tomography, Optical Coherence/methods
MH  - Visual Acuity
MH  - Visual Field Tests
MH  - Young Adult
EDAT- 2013/11/20 06:00
MHDA- 2014/04/25 06:00
CRDT- 2013/11/20 06:00
PHST- 2013/06/11 00:00 [received]
PHST- 2013/10/22 00:00 [revised]
PHST- 2013/10/22 00:00 [accepted]
PHST- 2013/11/20 06:00 [entrez]
PHST- 2013/11/20 06:00 [pubmed]
PHST- 2014/04/25 06:00 [medline]
AID - S0002-9394(13)00731-9 [pii]
AID - 10.1016/j.ajo.2013.10.021 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 2014 Mar;157(3):558-70.e1-4. doi: 10.1016/j.ajo.2013.10.021. 
      Epub 2013 Nov 16.