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

ObjectiveExperimental 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...

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Autores principales:	Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	AAAS ALADIN Triple A syndrome OCT retina neurodegeneration Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/46beb4bd2b034a6c9293f8c92e894141
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spelling	oai:doaj.org-article:46beb4bd2b034a6c9293f8c92e8941412021-11-12T13:16:44ZThe Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?1664-239210.3389/fendo.2021.729056https://doaj.org/article/46beb4bd2b034a6c9293f8c92e8941412021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.729056/fullhttps://doaj.org/toc/1664-2392ObjectiveExperimental 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.MethodsEleven 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).Results9 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 RelevanceThis 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.Fiorenza UlgiatiSophie LhoirIrina BalikovaSylvie TenoutasseEmese BorosCatheline VilainClaudine HeinrichsCécile BrachetFrontiers Media S.A.articleAAASALADINTriple A syndromeOCTretinaneurodegenerationDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	AAAS ALADIN Triple A syndrome OCT retina neurodegeneration Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	AAAS ALADIN Triple A syndrome OCT retina neurodegeneration Diseases of the endocrine glands. Clinical endocrinology RC648-665 Fiorenza Ulgiati Sophie Lhoir Irina Balikova Sylvie Tenoutasse Emese Boros Catheline Vilain Claudine Heinrichs Cécile Brachet The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
description	ObjectiveExperimental 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.MethodsEleven 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).Results9 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 RelevanceThis 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.
format	article
author	Fiorenza Ulgiati Sophie Lhoir Irina Balikova Sylvie Tenoutasse Emese Boros Catheline Vilain Claudine Heinrichs Cécile Brachet
author_facet	Fiorenza Ulgiati Sophie Lhoir Irina Balikova Sylvie Tenoutasse Emese Boros Catheline Vilain Claudine Heinrichs Cécile Brachet
author_sort	Fiorenza Ulgiati
title	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_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_sort	retina in patients with triple a syndrome: a window into neurodegeneration?
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/46beb4bd2b034a6c9293f8c92e894141
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The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

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