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. 2022 Apr 14;9:10. doi: 10.1038/s41439-022-00188-8

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — A T1-weighted sagittal magnetic resonance imaging (MRI) scan showing mild frontal polymicrogyria (beige arrow), frontal cortical volume loss (blue arrow), and cerebellar atrophy (green arrow). B Optical coherence tomography (OCT) of the optic nerves of proband. On the left-hand side the analysis of the right eye (oculus dexter, OD) is shown, and on the right-hand side, the analysis of the left eye (oculus sinister, OS) is shown. Thinning of the retinal nerve fiber layer (RNFL) is noted in temporal quadrants in both nerves, corresponding to clinically observed optic disc pallor.