Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction

Abstract Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With the advent of gene therapy and the numerous ongoing clinical trials for inherited retinal degenerations, quantifiable and reliable outcome measurements continually need to be identifie...

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Autores principales:	Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Joseph Ryu, Stephen H. Tsang, Janet R. Sparrow
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/636c6ae62e4144d8be8ee7b4ab5a007a
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spelling	oai:doaj.org-article:636c6ae62e4144d8be8ee7b4ab5a007a2021-12-02T15:02:24ZShort-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction10.1038/s41598-020-65763-x2045-2322https://doaj.org/article/636c6ae62e4144d8be8ee7b4ab5a007a2020-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-65763-xhttps://doaj.org/toc/2045-2322Abstract Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With the advent of gene therapy and the numerous ongoing clinical trials for inherited retinal degenerations, quantifiable and reliable outcome measurements continually need to be identified. In this retrospective analysis, normalized and non-normalized short-wavelength (SW-AF) and near-infrared (NIR-AF) autofluorescence images of ten patients with mutations in visual cycle (VC) genes and nineteen patients with mutations in phototransduction (PT) genes were analyzed. Normalized SW-AF and NIR-AF images appeared darker in all patients with mutations in the VC as compared to patients with mutations in PT despite the use of significantly higher detector settings for image acquisition in the former group. These findings were corroborated by quantitative analysis of non-normalized SW-AF and NIR-AF images; signal intensities were significantly lower in all patients with mutations in VC genes as compared to those with mutations in PT genes. We conclude that qualitative and quantitative SW-AF and NIR-AF images can serve as biomarkers of deficiencies specific to the VC. Additionally, quantitative autofluorescence may have potential for use as an outcome measurement to detect VC activity in conjunction with future therapies for patients with mutations in the VC.Jin Kyun OhJose Ronaldo Lima de CarvalhoJoseph RyuStephen H. TsangJanet R. SparrowNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jin Kyun Oh Jose Ronaldo Lima de Carvalho Joseph Ryu Stephen H. Tsang Janet R. Sparrow Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
description	Abstract Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With the advent of gene therapy and the numerous ongoing clinical trials for inherited retinal degenerations, quantifiable and reliable outcome measurements continually need to be identified. In this retrospective analysis, normalized and non-normalized short-wavelength (SW-AF) and near-infrared (NIR-AF) autofluorescence images of ten patients with mutations in visual cycle (VC) genes and nineteen patients with mutations in phototransduction (PT) genes were analyzed. Normalized SW-AF and NIR-AF images appeared darker in all patients with mutations in the VC as compared to patients with mutations in PT despite the use of significantly higher detector settings for image acquisition in the former group. These findings were corroborated by quantitative analysis of non-normalized SW-AF and NIR-AF images; signal intensities were significantly lower in all patients with mutations in VC genes as compared to those with mutations in PT genes. We conclude that qualitative and quantitative SW-AF and NIR-AF images can serve as biomarkers of deficiencies specific to the VC. Additionally, quantitative autofluorescence may have potential for use as an outcome measurement to detect VC activity in conjunction with future therapies for patients with mutations in the VC.
format	article
author	Jin Kyun Oh Jose Ronaldo Lima de Carvalho Joseph Ryu Stephen H. Tsang Janet R. Sparrow
author_facet	Jin Kyun Oh Jose Ronaldo Lima de Carvalho Joseph Ryu Stephen H. Tsang Janet R. Sparrow
author_sort	Jin Kyun Oh
title	Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
title_short	Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
title_full	Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
title_fullStr	Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
title_full_unstemmed	Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
title_sort	short-wavelength and near-infrared autofluorescence in patients with deficiencies of the visual cycle and phototransduction
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/636c6ae62e4144d8be8ee7b4ab5a007a
work_keys_str_mv	AT jinkyunoh shortwavelengthandnearinfraredautofluorescenceinpatientswithdeficienciesofthevisualcycleandphototransduction AT joseronaldolimadecarvalho shortwavelengthandnearinfraredautofluorescenceinpatientswithdeficienciesofthevisualcycleandphototransduction AT josephryu shortwavelengthandnearinfraredautofluorescenceinpatientswithdeficienciesofthevisualcycleandphototransduction AT stephenhtsang shortwavelengthandnearinfraredautofluorescenceinpatientswithdeficienciesofthevisualcycleandphototransduction AT janetrsparrow shortwavelengthandnearinfraredautofluorescenceinpatientswithdeficienciesofthevisualcycleandphototransduction
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Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction

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