Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

Advances in next-generation sequencing (NGS) facilitate the diagnosis of genetic disorders. To evaluate its use for the molecular diagnosis of inherited optic neuropathy (ION), a blinding disease caused by the degeneration of retinal ganglion cells, we performed genetic analysis using targeted NGS o...

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Bibliographic Details
Main Authors: Majida Charif, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Estelle Colin, Alban Ziegler, Vincent Procaccio, Pascal Reynier, Dominique Bonneau, Guy Lenaers, Patrizia Amati-Bonneau
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neurology
Subjects:
inherited optic neuropathies
mitochondrial disorders
molecular diagnosis
next generation sequencing
retinal ganglia cells
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.602979/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.602979/full

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