PMID- 22669287
OWN - NLM
STAT- MEDLINE
DCOM- 20121102
LR  - 20211021
IS  - 1573-2622 (Electronic)
IS  - 0012-4486 (Linking)
VI  - 125
IP  - 1
DP  - 2012 Aug
TI  - Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly 
      identified compound heterozygous mutation and review of the literature.
PG  - 51-62
LID - 10.1007/s10633-012-9336-z [doi]
AB  - The aim of this study was to describe multimodal retinal imaging of fundus 
      albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation 
      and to review the relevant literature. Five family members were examined, and the 
      RDH5 gene was analyzed by direct sequencing. The clinical features and genetic 
      study of FA are reviewed. The proband had a compound heterozygotic missense 
      mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) 
      in the RDH5 gene. Fundus examination revealed diffuse yellow flecks with foveal 
      sparing. Infrared reflectance (IR) imaging showed multiple discrete round 
      lesions, and fundus autofluorescence (FAF) imaging showed decreased 
      autofluorescence. In spectral domain optical coherence tomography (SD-OCT), the 
      lesions spanned across the retinal pigment epithelium complex and the 
      photoreceptor inner segment ellipsoid band. The outer nuclear layer thickness is 
      decreased compared to normal control. Electroretinography (ERG) showed improved 
      dark-adapted responses after a prolonged 2.5-h dark adaptation. The fundi of the 
      patient's son and daughter both appeared unremarkable. The clinical findings, 
      differential diagnosis, and genetic studies of these features are reviewed. This 
      is the first time that IR imaging of this disease has been reported; IR imaging 
      showed more detail than did FAF imaging. Although retinal imaging (fundus 
      photographs, FAF, IR, SD-OCT) of FA showed characteristic findings, ERG and 
      genetic study remain the most reliable tests for making the diagnosis.
FAU - Wang, Nan-Kai
AU  - Wang NK
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkuo Medical Center, 
      No. 5, Fu-Hsing Street, Kuei Shan, Taoyuan 333, Taiwan. wang.nankai@gmail.com
FAU - Chuang, Lan-Hsin
AU  - Chuang LH
FAU - Lai, Chi-Chun
AU  - Lai CC
FAU - Chou, Chai Lin
AU  - Chou CL
FAU - Chu, Hsueh-Yen
AU  - Chu HY
FAU - Yeung, Ling
AU  - Yeung L
FAU - Chen, Yen-Po
AU  - Chen YP
FAU - Chen, Kuan-Jen
AU  - Chen KJ
FAU - Wu, Wei-Chi
AU  - Wu WC
FAU - Chen, Tun-Lu
AU  - Chen TL
FAU - Chao, An-Ning
AU  - Chao AN
FAU - Hwang, Yih-Shiou
AU  - Hwang YS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20120606
PL  - Netherlands
TA  - Doc Ophthalmol
JT  - Documenta ophthalmologica. Advances in ophthalmology
JID - 0370667
RN  - 0 (11-cis-retinal-binding protein)
RN  - 0 (Carrier Proteins)
RN  - EC 1.1.- (Alcohol Oxidoreductases)
RN  - EC 1.1.1.105 (retinol dehydrogenase 5)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Alcohol Oxidoreductases/*genetics
MH  - Amino Acid Sequence
MH  - Carrier Proteins/genetics
MH  - Child
MH  - DNA Mutational Analysis
MH  - Dark Adaptation/physiology
MH  - Electroretinography
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Night Blindness/*diagnosis/*genetics/physiopathology
MH  - Ophthalmoscopy
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Retina/physiopathology
MH  - Retinal Degeneration/*diagnosis/*genetics/physiopathology
MH  - Tomography, Optical Coherence
MH  - Vision, Ocular
EDAT- 2012/06/07 06:00
MHDA- 2012/11/03 06:00
CRDT- 2012/06/07 06:00
PHST- 2012/02/16 00:00 [received]
PHST- 2012/05/21 00:00 [accepted]
PHST- 2012/06/07 06:00 [entrez]
PHST- 2012/06/07 06:00 [pubmed]
PHST- 2012/11/03 06:00 [medline]
AID - 10.1007/s10633-012-9336-z [doi]
PST - ppublish
SO  - Doc Ophthalmol. 2012 Aug;125(1):51-62. doi: 10.1007/s10633-012-9336-z. Epub 2012 
      Jun 6.