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Peripapillary Sparing in Autosomal Recessive Bestrophinopathy

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Peripapillary Sparing in Autosomal Recessive Bestrophinopathy. / Birtel, Johannes; Gliem, Martin; Herrmann, Philipp; MacLaren, Robert E; Bolz, Hanno J; Charbel Issa, Peter.

In: OPHTHALMOL RETINA, Vol. 4, No. 5, 05.2020, p. 523-529.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Birtel, J, Gliem, M, Herrmann, P, MacLaren, RE, Bolz, HJ & Charbel Issa, P 2020, 'Peripapillary Sparing in Autosomal Recessive Bestrophinopathy', OPHTHALMOL RETINA, vol. 4, no. 5, pp. 523-529. https://doi.org/10.1016/j.oret.2019.12.008

APA

Birtel, J., Gliem, M., Herrmann, P., MacLaren, R. E., Bolz, H. J., & Charbel Issa, P. (2020). Peripapillary Sparing in Autosomal Recessive Bestrophinopathy. OPHTHALMOL RETINA, 4(5), 523-529. https://doi.org/10.1016/j.oret.2019.12.008

Vancouver

Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P. Peripapillary Sparing in Autosomal Recessive Bestrophinopathy. OPHTHALMOL RETINA. 2020 May;4(5):523-529. https://doi.org/10.1016/j.oret.2019.12.008

Bibtex

@article{023a5455f0a54e438cb94e69d8949bbc,
title = "Peripapillary Sparing in Autosomal Recessive Bestrophinopathy",
abstract = "PURPOSE: To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive bestrophinopathy (ARB).DESIGN: Retrospective, cross-sectional case series and review of previous published cases.PARTICIPANTS: Twelve patients with ARB.METHODS: Ophthalmic assessment included best-corrected visual acuity testing, electrophysiologic examinations, and multimodal retinal imaging. Retinal imaging included OCT, blue-light autofluorescence imaging, fundus photography, and widefield pseudocolor and autofluorescence fundus imaging.MAIN OUTCOME MEASURES: Presence of peripapillary sparing on fundus autofluorescence images.RESULTS: Relatively normal-appearing peripapillary autofluorescence was identified in all patients, independent of the disease stage or presence of widespread changes on autofluorescence widefield images. OCT images of the peripapillary region revealed mild structural abnormalities, including a thinned outer nuclear layer and intraretinal or subretinal fluid. A review of previously published cases confirmed peripapillary sparing as consistent feature on fundus autofluorescence images. Genetic analysis revealed 10 previously reported mutations, 1 novel missense (c.83T>A; p.Ile28Asn) and 2 novel truncating (c.658C>T; p.Gln220* and c.1370C>G; p.Ser457*) variants in BEST1.CONCLUSIONS: In ARB patients, peripapillary sparing is a consistent feature on fundus autofluorescence images, whereas the same region is less preserved on OCT images.",
keywords = "Adolescent, Adult, Aged, Bestrophins/genetics, Cross-Sectional Studies, Electroretinography, Eye Diseases, Hereditary/diagnosis, Female, Fluorescein Angiography/methods, Fundus Oculi, Humans, Male, Middle Aged, Optic Disk/pathology, Retina/pathology, Retinal Diseases/diagnosis, Retrospective Studies, Tomography, Optical Coherence/methods, Young Adult",
author = "Johannes Birtel and Martin Gliem and Philipp Herrmann and MacLaren, {Robert E} and Bolz, {Hanno J} and {Charbel Issa}, Peter",
note = "Copyright {\textcopyright} 2019 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.",
year = "2020",
month = may,
doi = "10.1016/j.oret.2019.12.008",
language = "English",
volume = "4",
pages = "523--529",
journal = "OPHTHALMOL RETINA",
issn = "2468-6530",
publisher = "Elsevier Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Peripapillary Sparing in Autosomal Recessive Bestrophinopathy

AU - Birtel, Johannes

AU - Gliem, Martin

AU - Herrmann, Philipp

AU - MacLaren, Robert E

AU - Bolz, Hanno J

AU - Charbel Issa, Peter

N1 - Copyright © 2019 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

PY - 2020/5

Y1 - 2020/5

N2 - PURPOSE: To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive bestrophinopathy (ARB).DESIGN: Retrospective, cross-sectional case series and review of previous published cases.PARTICIPANTS: Twelve patients with ARB.METHODS: Ophthalmic assessment included best-corrected visual acuity testing, electrophysiologic examinations, and multimodal retinal imaging. Retinal imaging included OCT, blue-light autofluorescence imaging, fundus photography, and widefield pseudocolor and autofluorescence fundus imaging.MAIN OUTCOME MEASURES: Presence of peripapillary sparing on fundus autofluorescence images.RESULTS: Relatively normal-appearing peripapillary autofluorescence was identified in all patients, independent of the disease stage or presence of widespread changes on autofluorescence widefield images. OCT images of the peripapillary region revealed mild structural abnormalities, including a thinned outer nuclear layer and intraretinal or subretinal fluid. A review of previously published cases confirmed peripapillary sparing as consistent feature on fundus autofluorescence images. Genetic analysis revealed 10 previously reported mutations, 1 novel missense (c.83T>A; p.Ile28Asn) and 2 novel truncating (c.658C>T; p.Gln220* and c.1370C>G; p.Ser457*) variants in BEST1.CONCLUSIONS: In ARB patients, peripapillary sparing is a consistent feature on fundus autofluorescence images, whereas the same region is less preserved on OCT images.

AB - PURPOSE: To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive bestrophinopathy (ARB).DESIGN: Retrospective, cross-sectional case series and review of previous published cases.PARTICIPANTS: Twelve patients with ARB.METHODS: Ophthalmic assessment included best-corrected visual acuity testing, electrophysiologic examinations, and multimodal retinal imaging. Retinal imaging included OCT, blue-light autofluorescence imaging, fundus photography, and widefield pseudocolor and autofluorescence fundus imaging.MAIN OUTCOME MEASURES: Presence of peripapillary sparing on fundus autofluorescence images.RESULTS: Relatively normal-appearing peripapillary autofluorescence was identified in all patients, independent of the disease stage or presence of widespread changes on autofluorescence widefield images. OCT images of the peripapillary region revealed mild structural abnormalities, including a thinned outer nuclear layer and intraretinal or subretinal fluid. A review of previously published cases confirmed peripapillary sparing as consistent feature on fundus autofluorescence images. Genetic analysis revealed 10 previously reported mutations, 1 novel missense (c.83T>A; p.Ile28Asn) and 2 novel truncating (c.658C>T; p.Gln220* and c.1370C>G; p.Ser457*) variants in BEST1.CONCLUSIONS: In ARB patients, peripapillary sparing is a consistent feature on fundus autofluorescence images, whereas the same region is less preserved on OCT images.

KW - Adolescent

KW - Adult

KW - Aged

KW - Bestrophins/genetics

KW - Cross-Sectional Studies

KW - Electroretinography

KW - Eye Diseases, Hereditary/diagnosis

KW - Female

KW - Fluorescein Angiography/methods

KW - Fundus Oculi

KW - Humans

KW - Male

KW - Middle Aged

KW - Optic Disk/pathology

KW - Retina/pathology

KW - Retinal Diseases/diagnosis

KW - Retrospective Studies

KW - Tomography, Optical Coherence/methods

KW - Young Adult

U2 - 10.1016/j.oret.2019.12.008

DO - 10.1016/j.oret.2019.12.008

M3 - SCORING: Journal article

C2 - 32147488

VL - 4

SP - 523

EP - 529

JO - OPHTHALMOL RETINA

JF - OPHTHALMOL RETINA

SN - 2468-6530

IS - 5

ER -