PMID- 23299470
OWN - NLM
STAT- MEDLINE
DCOM- 20130402
LR  - 20220331
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 54
IP  - 2
DP  - 2013 Feb 1
TI  - High-resolution images of retinal structure in patients with choroideremia.
PG  - 950-61
LID - 10.1167/iovs.12-10707 [doi]
AB  - PURPOSE: To study retinal structure in choroideremia patients and carriers using 
      high-resolution imaging techniques. METHODS: Subjects from four families (six 
      female carriers and five affected males) with choroideremia (CHM) were 
      characterized with best-corrected visual acuity (BCVA), kinetic and static 
      perimetry, full-field electroretinography, and fundus autofluorescence (FAF). 
      High-resolution macular images were obtained with adaptive optics scanning laser 
      ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SD-OCT). 
      Coding regions of the CHM gene were sequenced. RESULTS: Molecular analysis of the 
      CHM gene identified a deletion of exons 9 to 15 in family A, a splice site 
      mutation at position 79+1 of exon 1 in family B, deletion of exons 6 to 8 in 
      family C, and a substitution at position 106 causing a premature stop in family 
      D. BCVA ranged from 20/16 to 20/63 in carriers and from 20/25 to 5/63 in affected 
      males. FAF showed abnormalities in all subjects. SD-OCT showed outer retinal 
      layer loss, outer retinal tubulations at the margin of outer retinal loss, and 
      inner retinal microcysts. Patchy cone loss was present in two symptomatic 
      carriers. In two affected males, cone mosaics were disrupted with increased cone 
      spacing near the fovea but more normal cone spacing near the edge of atrophy. 
      CONCLUSIONS: High-resolution retinal images in CHM carriers and affected males 
      demonstrated RPE and photoreceptor cell degeneration. As both RPE and 
      photoreceptor cells were affected, these cell types may degenerate simultaneously 
      in CHM. These findings provide insight into the effect of CHM mutations on 
      macular retinal structure, with implications for the development of treatments 
      for CHM. (ClinicalTrials.gov number, NCT00254605.).
FAU - Syed, Reema
AU  - Syed R
AD  - Department of Ophthalmology, University of California, San Francisco, USA.
FAU - Sundquist, Sanna M
AU  - Sundquist SM
FAU - Ratnam, Kavitha
AU  - Ratnam K
FAU - Zayit-Soudry, Shiri
AU  - Zayit-Soudry S
FAU - Zhang, Yuhua
AU  - Zhang Y
FAU - Crawford, J Brooks
AU  - Crawford JB
FAU - MacDonald, Ian M
AU  - MacDonald IM
FAU - Godara, Pooja
AU  - Godara P
FAU - Rha, Jungtae
AU  - Rha J
FAU - Carroll, Joseph
AU  - Carroll J
FAU - Roorda, Austin
AU  - Roorda A
FAU - Stepien, Kimberly E
AU  - Stepien KE
FAU - Duncan, Jacque L
AU  - Duncan JL
LA  - eng
SI  - ClinicalTrials.gov/NCT00254605
GR  - P30EY001931/EY/NEI NIH HHS/United States
GR  - UL1RR031973/RR/NCRR NIH HHS/United States
GR  - R01EY017607/EY/NEI NIH HHS/United States
GR  - C06RR016511/RR/NCRR NIH HHS/United States
GR  - EY002162/EY/NEI NIH HHS/United States
GR  - R01 EY017607/EY/NEI NIH HHS/United States
GR  - UL1 RR031973/RR/NCRR NIH HHS/United States
GR  - R01 EY014375/EY/NEI NIH HHS/United States
GR  - C06 RR016511/RR/NCRR NIH HHS/United States
GR  - P30 EY001931/EY/NEI NIH HHS/United States
GR  - R01EY014375/EY/NEI NIH HHS/United States
GR  - P30 EY002162/EY/NEI NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20130201
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (CHM protein, human)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/genetics/metabolism
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Choroideremia/genetics/metabolism/*pathology
MH  - DNA/genetics
MH  - Female
MH  - Fluorescein Angiography/*methods
MH  - Fundus Oculi
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Image Processing, Computer-Assisted/*methods
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Ophthalmoscopy/*methods
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Protein Prenylation
MH  - Retinal Cone Photoreceptor Cells/pathology
MH  - Tomography, Optical Coherence/*methods
MH  - Young Adult
PMC - PMC3564452
COIS- Disclosure: R. Syed, None; S.M. Sundquist, None; K. Ratnam, None; S. 
      Zayit-Soudry, None; Y. Zhang, None; J.B. Crawford, None; I.M. MacDonald, None; P. 
      Godara, None; J. Rha, None; J. Carroll, None; A. Roorda, P; K.E. Stepien, None; 
      J.L. Duncan, None
EDAT- 2013/01/10 06:00
MHDA- 2013/04/03 06:00
PMCR- 2013/02/01
CRDT- 2013/01/10 06:00
PHST- 2013/01/10 06:00 [entrez]
PHST- 2013/01/10 06:00 [pubmed]
PHST- 2013/04/03 06:00 [medline]
PHST- 2013/02/01 00:00 [pmc-release]
AID - iovs.12-10707 [pii]
AID - 10.1167/iovs.12-10707 [doi]
PST - epublish
SO  - Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):950-61. doi: 10.1167/iovs.12-10707.