PMID- 26551331
OWN - NLM
STAT- MEDLINE
DCOM- 20160219
LR  - 20181113
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 56
IP  - 12
DP  - 2015 Nov
TI  - Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 
      Carriers.
PG  - 7274-85
LID - 10.1167/iovs.15-17371 [doi]
AB  - PURPOSE: To assess whether carriers of ABCA4 mutations have increased RPE 
      lipofuscin levels based on quantitative fundus autofluorescence (qAF) and whether 
      spectral-domain optical coherence tomography (SD-OCT) reveals structural 
      abnormalities in this cohort. METHODS: Seventy-five individuals who are 
      heterozygous for ABCA4 mutations (mean age, 47.3 years; range, 9-82 years) were 
      recruited as family members of affected patients from 46 unrelated families. For 
      comparison, 57 affected family members with biallelic ABCA4 mutations (mean age, 
      23.4 years; range, 6-67 years) and two noncarrier siblings were also enrolled. 
      Autofluorescence images (30 degrees , 488-nm excitation) were acquired with a confocal 
      scanning laser ophthalmoscope equipped with an internal fluorescent reference. 
      The gray levels (GLs) of each image were calibrated to the reference, zero GL, 
      magnification, and normative optical media density to yield qAF. Horizontal 
      SD-OCT scans through the fovea were obtained and the thicknesses of the outer 
      retinal layers were measured. RESULTS: In 60 of 65 carriers of ABCA4 mutations 
      (age range, 9-60), qAF levels were within normal limits (95% confidence level) 
      observed for healthy noncarrier subjects, while qAF levels of affected family 
      members were significantly increased. Perifoveal fleck-like abnormalities were 
      observed in fundus AF images in four carriers, and corresponding changes were 
      detected in the outer retinal layers in SD-OCT scans. Thicknesses of the outer 
      retinal layers were within the normal range. CONCLUSIONS: With few exceptions, 
      individuals heterozygous for ABCA4 mutations and between the ages of 9 and 60 
      years do not present with elevated qAF. In a small number of carriers, perifoveal 
      fleck-like changes were visible.
FAU - Duncker, Tobias
AU  - Duncker T
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States.
FAU - Stein, Gregory E
AU  - Stein GE
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States.
FAU - Lee, Winston
AU  - Lee W
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States.
FAU - Tsang, Stephen H
AU  - Tsang SH
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States 2Department of Pathology and Cell Biology, Columbia University, New York, 
      New York, United States.
FAU - Zernant, Jana
AU  - Zernant J
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States.
FAU - Bearelly, Srilaxmi
AU  - Bearelly S
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States.
FAU - Hood, Donald C
AU  - Hood DC
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States 3Department of Psychology, Columbia University, New York, New York, United 
      States.
FAU - Greenstein, Vivienne C
AU  - Greenstein VC
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States.
FAU - Delori, Francois C
AU  - Delori FC
AD  - Schepens Eye Research Institute and Department of Ophthalmology, Harvard Medical 
      School, Boston, Massachusetts, United States.
FAU - Allikmets, Rando
AU  - Allikmets R
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States 2Department of Pathology and Cell Biology, Columbia University, New York, 
      New York, United States.
FAU - Sparrow, Janet R
AU  - Sparrow JR
AD  - Department of Ophthalmology, Columbia University, New York, New York, United 
      States 2Department of Pathology and Cell Biology, Columbia University, New York, 
      New York, United States.
LA  - eng
GR  - R01 EY024091/EY/NEI NIH HHS/United States
GR  - EY024091/EY/NEI NIH HHS/United States
GR  - P30 EY019007/EY/NEI NIH HHS/United States
GR  - EY019007/EY/NEI NIH HHS/United States
GR  - EY021163/EY/NEI NIH HHS/United States
GR  - R01 EY021163/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics/metabolism
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Child, Preschool
MH  - DNA/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Fluorescein Angiography/*methods
MH  - Fundus Oculi
MH  - Humans
MH  - Macular Degeneration/*genetics/metabolism/pathology
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Retinal Pigment Epithelium/metabolism/*pathology
MH  - Rod Cell Outer Segment
MH  - Tomography, Optical Coherence/*methods
MH  - Young Adult
PMC - PMC4642605
EDAT- 2015/11/10 06:00
MHDA- 2016/02/20 06:00
PMCR- 2016/05/01
CRDT- 2015/11/10 06:00
PHST- 2015/11/10 06:00 [entrez]
PHST- 2015/11/10 06:00 [pubmed]
PHST- 2016/02/20 06:00 [medline]
PHST- 2016/05/01 00:00 [pmc-release]
AID - 2469813 [pii]
AID - IOVS-15-17371 [pii]
AID - 10.1167/iovs.15-17371 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7274-85. doi: 10.1167/iovs.15-17371.