Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence

Investigative Ophthalmology & Visual Science
Maarjaliis PaavoJanet R Sparrow

Abstract

We sought to advance interpretations and quantification of short-wavelength fundus autofluorescence (SW-AF) emitted from bisretinoid lipofuscin and near-infrared autofluoresence (NIR-AF) originating from melanin. Carriers of mutations in X-linked GPR143/OA1, a common form of ocular albinism; patients with confirmed mutations in ABCA4 conferring increased SW-AF; and subjects with healthy eyes were studied. SW-AF (488 nm excitation, 500-680 nm emission) and NIR-AF (excitation 787 nm, emission >830 nm) images were acquired with a confocal scanning laser ophthalmoscope. SW-AF images were analyzed for quantitative autofluoresence (qAF). Analogous methods of image acquisition and analysis were performed in albino and pigmented Abca4-/- mice and wild-type mice. Quantitation of SW-AF (qAF), construction of qAF color-coded maps, and examination of NIR-AF images from GPR143/OA1 carriers revealed mosaics in which patches of fundus exhibiting NIR-AF signal had qAF levels within normal limits whereas the hypopigmented areas in the NIR-AF image corresponded to foci of elevated qAF. qAF also was increased in albino versus pigmented mice. Although melanin contributes to fundus infrared reflectance, the latter appeared to be uniform in en face ...Continue Reading

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Citations

Feb 12, 2019·Retina·Ali M AllahdinaCatherine A Cukras
May 10, 2019·Investigative Ophthalmology & Visual Science·Jose Ronaldo Lima de CarvalhoJanet R Sparrow
Mar 20, 2020·The Journal of Biological Chemistry·Jose Ronaldo Lima de CarvalhoJanet R Sparrow
Jul 14, 2020·Investigative Ophthalmology & Visual Science·Vera L BonilhaJoe G Hollyfield
Sep 24, 2019·Ophthalmic Genetics·Dario Pasquale MuccioloStanislao Rizzo
Apr 25, 2019·Scientific Reports·Lijuan ChenJanet R Sparrow
Sep 10, 2019·Investigative Ophthalmology & Visual Science·Maarjaliis PaavoJanet R Sparrow
Jan 30, 2021·Translational Vision Science & Technology·Liang HanJanet R Sparrow
Apr 13, 2020·Progress in Retinal and Eye Research·Frans P M CremersRando Allikmets
Aug 8, 2020·Progress in Retinal and Eye Research·Steffen Schmitz-ValckenbergFrank G Holz
Apr 11, 2021·The Journal of Biological Chemistry·Jin ZhaoJanet R Sparrow
Jun 12, 2021·Investigative Ophthalmology & Visual Science·Janet R SparrowRuben Jauregui
Aug 12, 2021·Scientific Reports·Ratheesh K MeleppatRobert J Zawadzki
Oct 28, 2019·EBioMedicine·Tatjana TaubitzUlrich Schraermeyer

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Software Mentioned

Fiji
Heidelberg
Prism
qAF
Heidelberg Eye Explorer
ImageJ
GraphPad

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