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Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

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Abstract

Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.

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Data access, responsibility, and analysis

I, Stéphane Abramowicz, corresponding author of this paper, state that I had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis as well as the decision to submit for publication.

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Authors and Affiliations

  1. Department of Ophthalmology, IHU FOReSIGHT, Hôpital Universitaire Pitié-Salpêtrière, Sorbonne Université, 47-83 Boulevard de l’Hôpital, 75013, Paris, France

    Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi & Sara Touhami

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  1. Stéphane Abramowicz
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  2. Alexandre Dentel
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  3. Maxime Chouraqui
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  4. Bahram Bodaghi
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  5. Sara Touhami
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Stéphane Abramowicz, Alexandre Dentel, and Maxime Chouraqui. The first draft of the manuscript was written by Stéphane Abramowicz and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. All authors attest that they meet the current ICMJE criteria for authorship.

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Correspondence to Stéphane Abramowicz.

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Ethical approval was waived by the local Ethics Committee of Hôpital Universitaire Pitié-Salpêtrière in view of the retrospective nature of the study and all the procedures being performed were part of the routine care.

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Abramowicz, S., Dentel, A., Chouraqui, M. et al. Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship. Neurogenetics 25, 33–38 (2024). https://doi.org/10.1007/s10048-023-00741-9

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  • DOI: https://doi.org/10.1007/s10048-023-00741-9

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