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. 2019 Jul 13;104(4):547–550. doi: 10.1136/bjophthalmol-2019-314293

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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(A) Pedigree of family with TUBB3 mutation. (B and C) MRI from F1:II-1 showing the left anterior insular cortical malformation. (B) Axial T1-weighted image showing thickening of the anterior insular cortex (arrows) with indistinct grey–white matter interface, and (C) corresponding T2 hyperintensity (arrows) on the T2-weighted fluid-attenuated inversion recovery image. (D) Axial T2-weighted image showing thread-like oculomotor nerves (arrows) in F1:I-1. (E) Coronal T1-weighted image showing small medial recti (arrows) in F1:I-1