PMID- 26230768
OWN - NLM
STAT- MEDLINE
DCOM- 20150914
LR  - 20240109
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 56
IP  - 8
DP  - 2015 Jul
TI  - Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, 
      Near-Infrared Autofluorescence, and Optical Coherence Tomography.
PG  - 5029-39
LID - 10.1167/iovs.15-16763 [doi]
AB  - PURPOSE: We evaluated the incongruous observation whereby flecks in recessive 
      Stargardt disease (STGD1) can exhibit increased short-wavelength autofluorescence 
      (SW-AF) that originates from retinal pigment epithelium (RPE) lipofuscin, while 
      near-infrared AF (NIR-AF), emitted primarily from RPE melanin, is usually reduced 
      or absent at fleck positions. METHODS: Flecks in SW- and NIR-AF images and 
      spectral-domain optical coherence tomography (SD-OCT) scans were studied in 19 
      STGD1 patients carrying disease-causing ABCA4 mutations. Fleck spatial 
      distribution and progression were recorded in serial AF images. RESULTS: Flecks 
      observed in SW-AF images typically colocalized with darkened foci in NIR-AF 
      images; the NIR-AF profiles were larger. The decreased NIR-AF signal from flecks 
      preceded apparent changes in SW-AF. Spatiotemporal changes in fleck distribution 
      usually progressed centrifugally, but in one case centripetal expansion was 
      observed. Flecks in SW-AF images corresponded to hyperreflective deposits that 
      progressively traversed photoreceptor-attributable bands in SD-OCT images. Outer 
      nuclear layer (ONL) thickness negatively correlated with expansion of flecks from 
      outer to inner retina. CONCLUSIONS: In the healthy retina, RPE lipofuscin 
      fluorophores form in photoreceptor cells but are transferred to RPE; thus the 
      SW-AF signal from photoreceptor cells is negligible. In STGD1, NIR-AF imaging 
      reveals that flecks are predominantly hypofluorescent and larger and that NIR-AF 
      darkening occurs prior to heightened SW-AF signal. These observations indicate 
      that RPE cells associated with flecks in STGD1 are considerably changed or lost. 
      Spectral-domain OCT findings are indicative of ongoing photoreceptor cell 
      degeneration. The bright SW-AF signal of flecks likely originates from augmented 
      lipofuscin formation in degenerating photoreceptor cells impaired by the failure 
      of RPE.
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.
FAU - Marsiglia, Marcela
AU  - Marsiglia M
AD  - Department of Ophthalmology Columbia University, New York, New York, 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 - Tsang, Stephen
AU  - Tsang S
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 - Lee, Winston
AU  - Lee W
AD  - Department of Ophthalmology Columbia University, New York, New York, United 
      States.
FAU - Duncker, Tobias
AU  - Duncker T
AD  - Department of Ophthalmology 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.
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
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Electroretinography
MH  - Female
MH  - Fluorescein Angiography/*methods
MH  - Fundus Oculi
MH  - Humans
MH  - Macular Degeneration/diagnosis
MH  - Male
MH  - Middle Aged
MH  - Stargardt Disease
MH  - Tomography, Optical Coherence/*methods
MH  - Young Adult
PMC - PMC4525681
EDAT- 2015/08/01 06:00
MHDA- 2015/09/15 06:00
PMCR- 2016/01/01
CRDT- 2015/08/01 06:00
PHST- 2015/08/01 06:00 [entrez]
PHST- 2015/08/01 06:00 [pubmed]
PHST- 2015/09/15 06:00 [medline]
PHST- 2016/01/01 00:00 [pmc-release]
AID - 2422885 [pii]
AID - IOVS-15-16763 [pii]
AID - 10.1167/iovs.15-16763 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2015 Jul;56(8):5029-39. doi: 10.1167/iovs.15-16763.