Retinal dysfunction characterizes subtypes of dominant optic atrophy.

Maria Lucia Cascavilla,Vincenzo Parisi,Giacinto Triolo,Lucia Ziccardi,Enrico Borrelli,Antonio Di Renzo,Nicole Balducci,Costanza Lamperti,Stefania Bianchi Marzoli, Fatima Darvizeh,Alfredo A Sadun,Valerio Carelli,Francesco Bandello,Piero Barboni

Acta ophthalmologica（2018）

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摘要

Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment.

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关键词

OPA1 gene,dominant optic atrophy,multifocal electroretinogram,photoreceptors,retinal topography

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