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. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063

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© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Clinical data of the dominant and recessive ACO2 individuals. (A and B) Left: Eye fundus pictures of individuals with a dominant (A: P8) and a recessive (B: P52) ACO2 mutation revealing the temporal pallor of the optic discs in both REs and LEs. Right: Evaluation of the retinal nerve fibre layer by optic coherence tomography in the same individuals, disclosing in both cases the retinal nerve fibre layer reduction in the temporal quadrants. The green area defines the 5th to 95th, the yellow area the 1st to 5th and the red area below the 1st percentiles. INF = inferior quadrants; LE = left eye; NAS = nasal; RE = right eye; SUP = superior; TEMP = temporal. (C) Ages at diagnosis categorized in six groups and represented as percentages of the number of individuals in the dominant and recessive cohorts (y = years) are not significantly different (P-value: 0.54). (D) Visual acuities (VA), categorized in five ranges, and represented as percentages of the total number of eyes are significantly different between dominant and recessive cases (P-value: 0.001). (E) Alterations of the optic disc, according to the different retinal nerve fibre layer quadrants were assessed by optical coherence tomography. Data are represented as percentages of each alteration from all eyes for which the data were available. (temp. = temporal; inf. = inferior; sup. = superior) and are not significantly different between dominant and recessive cases (P-value: 0.88). (F) Percentage of dominant and recessive ACO2 individuals presenting extra-ocular symptoms.