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Saleh et al. J Transl Genet Genom 2021;5:250-64 https://dx.doi.org/10.20517/jtgg.2021.23 Page 262

treatment trials, it will be important to evaluate areas not covered by M-OCT to define markers for
monitoring of treatment effects.

[30]
In addition, as shown previously in myopic eyes , W-OCT allows identifying posterior staphyloma or
dome-shaped bulbus configuration in myopic eyes. Within this series, foveal cavitation and optic disc
drusen were seen in only one patient each (1.9%). In contrast to BEST1-associated retinal dystrophies ,
[41]
focal choroidal excavation was observed at the posterior pole in only two eyes of two ABCA4-IRD patients
and in addition in the mid-periphery in a another eye of one patient (3/104; 2.8%), supporting that it is rare
[42]
in ABCA4-associated disorders .
The findings resulting from FAF and NIA evaluation are comparable to previous reports, indicating that
[5-8]
NIA findings usually are more progressed and severe compared to FAF findings . The frequency of
peripapillary sparing was within the range reported previously , indicating that peripapillary sparing may
[43]
lead to suspect ABCA4-IRD but is not a characteristic biomarker.

DECLARATIONS
Authors’ contributions
Made substantial contributions to conception and design of the study and performed data analysis and
interpretation: Saleh M, Stöhr H, Kiel C, Weber BHF, Kellner U
Performed data acquisition, as well as provided administrative, technical, and material support: Kellner S,
Weinitz S, Farmand G, Lommatsch A, Weber BHF, Kellner U

Availability of data and materials
Data cannot be shared as they contain patient specific information.

Financial support and sponsorship
None.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
The ethics committee of the Ärztekammer Nordrhein, Düsseldorf, Germany approved the research.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2021.

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