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The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

OBJECTIVE: Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve involvement in children with Triple A syndro...

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Autores principales: Ulgiati, Fiorenza, Lhoir, Sophie, Balikova, Irina, Tenoutasse, Sylvie, Boros, Emese, Vilain, Catheline, Heinrichs, Claudine, Brachet, Cécile
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633871/
https://www.ncbi.nlm.nih.gov/pubmed/34867779
http://dx.doi.org/10.3389/fendo.2021.729056
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author Ulgiati, Fiorenza
Lhoir, Sophie
Balikova, Irina
Tenoutasse, Sylvie
Boros, Emese
Vilain, Catheline
Heinrichs, Claudine
Brachet, Cécile
author_facet Ulgiati, Fiorenza
Lhoir, Sophie
Balikova, Irina
Tenoutasse, Sylvie
Boros, Emese
Vilain, Catheline
Heinrichs, Claudine
Brachet, Cécile
author_sort Ulgiati, Fiorenza
collection PubMed
description OBJECTIVE: Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve involvement in children with Triple A syndrome. METHODS: Eleven patients with genetically proven Triple A syndrome followed-up in our centre were approached for study participation. The main outcome was the measurement of the thicknesses of the different retinal layers by Optical Coherence Tomography (OCT). RESULTS: 9 patients with triple A syndrome had OCT measurements. 7 patients were children and 2 were adults; 4 were females and 5 were males. The 7 paediatric patients had at least two OCT measured at a mean interval of 7.9 months after the first one. The average Retinal Nerve Fibre Layer thickness was 74 ± 10 µm in patients compared to the paediatric reference range of 100 ± 2 µm (p<0.05). CONCLUSIONS AND RELEVANCE: This is the first study to document retinal layer thicknesses in a series of patients with Triple A syndrome. Nearly all retinal thickness and peripapillary RNFL measurements were very significantly inferior to the reference range in Triple A patients, whatever their age. RNFL thinning was more marked at the temporal part of the optic nerve. OCT being non-invasive, it represents a promising tool to assess the severity of neurodegeneration in patients with Triple A syndrome.
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spelling pubmed-86338712021-12-02 The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration? Ulgiati, Fiorenza Lhoir, Sophie Balikova, Irina Tenoutasse, Sylvie Boros, Emese Vilain, Catheline Heinrichs, Claudine Brachet, Cécile Front Endocrinol (Lausanne) Endocrinology OBJECTIVE: Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve involvement in children with Triple A syndrome. METHODS: Eleven patients with genetically proven Triple A syndrome followed-up in our centre were approached for study participation. The main outcome was the measurement of the thicknesses of the different retinal layers by Optical Coherence Tomography (OCT). RESULTS: 9 patients with triple A syndrome had OCT measurements. 7 patients were children and 2 were adults; 4 were females and 5 were males. The 7 paediatric patients had at least two OCT measured at a mean interval of 7.9 months after the first one. The average Retinal Nerve Fibre Layer thickness was 74 ± 10 µm in patients compared to the paediatric reference range of 100 ± 2 µm (p<0.05). CONCLUSIONS AND RELEVANCE: This is the first study to document retinal layer thicknesses in a series of patients with Triple A syndrome. Nearly all retinal thickness and peripapillary RNFL measurements were very significantly inferior to the reference range in Triple A patients, whatever their age. RNFL thinning was more marked at the temporal part of the optic nerve. OCT being non-invasive, it represents a promising tool to assess the severity of neurodegeneration in patients with Triple A syndrome. Frontiers Media S.A. 2021-11-12 /pmc/articles/PMC8633871/ /pubmed/34867779 http://dx.doi.org/10.3389/fendo.2021.729056 Text en Copyright © 2021 Ulgiati, Lhoir, Balikova, Tenoutasse, Boros, Vilain, Heinrichs and Brachet https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Ulgiati, Fiorenza
Lhoir, Sophie
Balikova, Irina
Tenoutasse, Sylvie
Boros, Emese
Vilain, Catheline
Heinrichs, Claudine
Brachet, Cécile
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
title The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
title_full The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
title_fullStr The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
title_full_unstemmed The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
title_short The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
title_sort retina in patients with triple a syndrome: a window into neurodegeneration?
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633871/
https://www.ncbi.nlm.nih.gov/pubmed/34867779
http://dx.doi.org/10.3389/fendo.2021.729056
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