Macular impairment in mitochondrial diseases: a potential biomarker of disease severity

Abstract The high-energy demands of the retina are thought to contribute to its particular vulnerability to mitochondrial dysfunction. Photoreceptors are the cells with the higher oxygen consumption within the retina, and among these, the cones contain more mitochondria and have a higher energy dema...

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Autores principales:	Guido Primiano, Edoardo Abed, Giovanni Corbo, Angelo Maria Minnella, Serenella Servidei, Catello Vollono, Maria Cristina Savastano, Benedetto Falsini
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/4f4f28862fa740eca17e7a2f8390f36f
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spelling	oai:doaj.org-article:4f4f28862fa740eca17e7a2f8390f36f2021-12-02T14:58:53ZMacular impairment in mitochondrial diseases: a potential biomarker of disease severity10.1038/s41598-020-65482-32045-2322https://doaj.org/article/4f4f28862fa740eca17e7a2f8390f36f2020-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-65482-3https://doaj.org/toc/2045-2322Abstract The high-energy demands of the retina are thought to contribute to its particular vulnerability to mitochondrial dysfunction. Photoreceptors are the cells with the higher oxygen consumption within the retina, and among these, the cones contain more mitochondria and have a higher energy demand than rods. A cohort of twenty-two patients with genetically-defined mitochondrial diseases (MDs) were enrolled to determine if the macula is functionally and anatomically impaired in these metabolic disorders. Visual acuity and fERG amplitude of patients with primary mitochondrial dysfunction were reduced compared to controls. Furthermore, SD-OCT layer segmentation showed a reduction of retinal and outer nuclear layer (ONL) volume in the macula of the patients. fERG amplitude showed a positive correlation with both ONL volume and thickness. A negative relationship was noted between fERG amplitude and disease severity assessed with Newcastle Mitochondrial Disease Adult Scale. In conclusion, MDs are associated with functional and anatomical alteration of macular cone system, characterized by its strong correlation with clinical disease severity suggesting a role as a potential biomarker of primary mitochondrial disorders.Guido PrimianoEdoardo AbedGiovanni CorboAngelo Maria MinnellaSerenella ServideiCatello VollonoMaria Cristina SavastanoBenedetto FalsiniNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Guido Primiano Edoardo Abed Giovanni Corbo Angelo Maria Minnella Serenella Servidei Catello Vollono Maria Cristina Savastano Benedetto Falsini Macular impairment in mitochondrial diseases: a potential biomarker of disease severity
description	Abstract The high-energy demands of the retina are thought to contribute to its particular vulnerability to mitochondrial dysfunction. Photoreceptors are the cells with the higher oxygen consumption within the retina, and among these, the cones contain more mitochondria and have a higher energy demand than rods. A cohort of twenty-two patients with genetically-defined mitochondrial diseases (MDs) were enrolled to determine if the macula is functionally and anatomically impaired in these metabolic disorders. Visual acuity and fERG amplitude of patients with primary mitochondrial dysfunction were reduced compared to controls. Furthermore, SD-OCT layer segmentation showed a reduction of retinal and outer nuclear layer (ONL) volume in the macula of the patients. fERG amplitude showed a positive correlation with both ONL volume and thickness. A negative relationship was noted between fERG amplitude and disease severity assessed with Newcastle Mitochondrial Disease Adult Scale. In conclusion, MDs are associated with functional and anatomical alteration of macular cone system, characterized by its strong correlation with clinical disease severity suggesting a role as a potential biomarker of primary mitochondrial disorders.
format	article
author	Guido Primiano Edoardo Abed Giovanni Corbo Angelo Maria Minnella Serenella Servidei Catello Vollono Maria Cristina Savastano Benedetto Falsini
author_facet	Guido Primiano Edoardo Abed Giovanni Corbo Angelo Maria Minnella Serenella Servidei Catello Vollono Maria Cristina Savastano Benedetto Falsini
author_sort	Guido Primiano
title	Macular impairment in mitochondrial diseases: a potential biomarker of disease severity
title_short	Macular impairment in mitochondrial diseases: a potential biomarker of disease severity
title_full	Macular impairment in mitochondrial diseases: a potential biomarker of disease severity
title_fullStr	Macular impairment in mitochondrial diseases: a potential biomarker of disease severity
title_full_unstemmed	Macular impairment in mitochondrial diseases: a potential biomarker of disease severity
title_sort	macular impairment in mitochondrial diseases: a potential biomarker of disease severity
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/4f4f28862fa740eca17e7a2f8390f36f
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Macular impairment in mitochondrial diseases: a potential biomarker of disease severity

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