PMID- 34115091
OWN - NLM
STAT- MEDLINE
DCOM- 20211006
LR  - 20211006
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 62
IP  - 7
DP  - 2021 Jun 1
TI  - Shared Features in Retinal Disorders With Involvement of Retinal Pigment 
      Epithelium.
PG  - 15
LID - 10.1167/iovs.62.7.15 [doi]
LID - 15
AB  - When using spectral domain optical coherence tomography (SD-OCT) to inform the 
      status of outer retina, we have noted discrete hyperreflective lesions extending 
      through photoreceptor-attributable bands that have a similar presentation in 
      multiple retinal diseases. These lesions present as either corrugated thickenings 
      of interdigitation zone and ellipsoid zone bands or in later stages as 
      rectangular or pyramidal shaped foci that extend radially through photoreceptor 
      cell-attributable bands. In ABCA4-related and peripherin-2/RDS-disease 
      (PRPH2/RDS), monogenic forms of retinopathy caused by mutations in proteins 
      expressed in photoreceptor cells, these punctate lesions colocalize with fundus 
      flecks in en face images. In fundus albipunctatus and retinitis punctata 
      albescens, diseases caused by mutations in genes (retinol dehydrogenase 5, RDH5; 
      and retinaldehyde-binding protein 1, RLBP1) encoding proteins of the visual 
      cycle, these lesions manifest as white dot-like puncta. Similar aberrations in 
      photoreceptor cell-attributable SD-OCT reflectivity layers manifest as reticular 
      pseudodrusen (RPD) in short-wavelength fundus autofluorescence and near-infrared 
      fundus autofluorescence fundus images and are linked to age-related macular 
      degeneration a complex disease. Despite differences in the etiologies of retinal 
      diseases presenting as fundus flecks, dots and RPD, underlying degenerative 
      processes in photoreceptor cells are signified in SD-OCT scans by the loss of 
      structural features that would otherwise define healthy photoreceptor cells at 
      these foci.
FAU - Sparrow, Janet R
AU  - Sparrow JR
AD  - Department of Ophthalmology, Harkness Eye Institute, Columbia University, New 
      York, New York, United States.
AD  - Department of Pathology and Cell Biology, Columbia University Medical Center, New 
      York, New York, United States.
FAU - Parmann, Rait
AU  - Parmann R
AD  - Department of Ophthalmology, Harkness Eye Institute, Columbia University, New 
      York, New York, United States.
FAU - Tsang, Stephen H
AU  - Tsang SH
AD  - Department of Ophthalmology, Harkness Eye Institute, Columbia University, New 
      York, New York, United States.
AD  - Department of Pathology and Cell Biology, Columbia University Medical Center, New 
      York, New York, United States.
FAU - Allikmets, Rando
AU  - Allikmets R
AD  - Department of Ophthalmology, Harkness Eye Institute, Columbia University, New 
      York, New York, United States.
AD  - Department of Pathology and Cell Biology, Columbia University Medical Center, New 
      York, New York, United States.
FAU - Chang, Stanley
AU  - Chang S
AD  - Department of Ophthalmology, Harkness Eye Institute, Columbia University, New 
      York, New York, United States.
FAU - Jauregui, Ruben
AU  - Jauregui R
AD  - Department of Ophthalmology, Harkness Eye Institute, Columbia University, New 
      York, New York, United States.
LA  - eng
GR  - P30 EY019007/EY/NEI NIH HHS/United States
GR  - R01 EY024091/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 (11-cis-retinal-binding protein)
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Carrier Proteins)
RN  - EC 1.1.- (Alcohol Oxidoreductases)
RN  - EC 1.1.1.105 (retinol dehydrogenase 5)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Adolescent
MH  - Alcohol Oxidoreductases/*genetics
MH  - Carrier Proteins/*genetics
MH  - Correlation of Data
MH  - Diagnosis, Differential
MH  - Disease Progression
MH  - Female
MH  - Fundus Oculi
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Optical Imaging/*methods
MH  - *Retinal Diseases/diagnostic imaging/genetics/physiopathology
MH  - Retinal Drusen/pathology/physiopathology
MH  - *Retinal Pigment Epithelium/pathology/physiopathology
MH  - Tomography, Optical Coherence/methods
PMC - PMC8196415
COIS- Disclosure: J.R. Sparrow, None; R. Parmann, None; S.H. Tsang, None; R. Allikmets, 
      None; S. Chang, None; R. Jauregui, None
EDAT- 2021/06/12 06:00
MHDA- 2021/10/07 06:00
PMCR- 2021/06/11
CRDT- 2021/06/11 12:18
PHST- 2021/06/11 12:18 [entrez]
PHST- 2021/06/12 06:00 [pubmed]
PHST- 2021/10/07 06:00 [medline]
PHST- 2021/06/11 00:00 [pmc-release]
AID - 2772696 [pii]
AID - IOVS-21-32658 [pii]
AID - 10.1167/iovs.62.7.15 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):15. doi: 10.1167/iovs.62.7.15.