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Saleh et al. J Transl Genet Genom 2021;5:250-64 Journal of Translational
DOI: 10.20517/jtgg.2021.23
Genetics and Genomics

Original Article Open Access

Wide-field optical coherence tomography in ABCA4-
associated inherited retinal dystrophies

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Mohammad Saleh , Heidi Stöhr , Christina Kiel , Simone Kellner , Silke Weinitz , Ghazaleh Farmand ,
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Bernhard H. F. Weber , Albrecht Lommatzsch , Ulrich Kellner 1,3
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Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiezentrum Siegburg GmbH,
Siegburg 53721, Germany.
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Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany.
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RetinaScience, Bonn 53192, Germany.
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Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg 93053, Germany.
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Eye Care Center at St. Franziskus Hospital Münster, Münster 48145, Germany.
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Achim-Wessing-Institute for Ophthalmologic Diagnostics, University Hospital Essen, Essen 45147, Germany.
Correspondence to: Mohammad Saleh, Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augenärztliches
Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, Siegburg 53721, Germany. E-mail: M.Saleh@osg.de
How to cite this article: Saleh M, Stöhr H, Kiel C, Kellner S, Weinitz S, Farmand G, Weber BHF, Lommatzsch A, Kellner U. Wide-
field optical coherence tomography in ABCA4-associated inherited retinal dystrophies. J Transl Genet Genom 2021;5:250-64.
https://dx.doi.org/10.20517/jtgg.2021.23
Received: 25 Apr 2021 First Decision: 30 Jun 2021 Revised: 11 Jul 2021 Accepted: 20 Jul 2021 First online: 20 Jul 2021
Academic Editor: Sanjay Gupta Copy Editor: Yue-Yue Zhang Production Editor: Yue-Yue Zhang
Abstract
Aim: With a need to expand the monitoring options in therapeutic clinical trials, we evaluated the additional
information provided by wide-field optical coherence tomography (W-OCT) compared to conventional macular
volume scan OCT (M-OCT) in ABCA4 gene-associated inherited retinal dystrophies (ABCA4-IRD).

Methods: A consecutive series of 52 ABCA4-IRD patients (mean age at last examination: 35.9 years, range 8.8-
68.7 years) was examined between 2015 and 2021. Ophthalmologic examination included clinical examination, M-
OCT [20 × 20 degree field (6.2 mm × 6.2 mm)], W-OCT [55 × 25 degree field (16.1 mm × 7.3 mm)], multicolor
reflectance photography, fundus (FAF), and near-infrared autofluorescence (NIA) in macular and wide-field mode.
Molecular genetic testing to confirm the clinical phenotype was performed in all patients.

Results: In 37/52 (71.2%) of patients W-OCT revealed alterations of the outer retinal layers beyond the area
covered by M-OCT at their last examination. In 15 patients, lesions were located within the area covered by M-
OCT. Lesions beyond M-OCT consisted of subretinal material (31/37), as well as patches (18/37) or large

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
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