Characterization of SSBP1-related optic atrophy and foveopathy

Characterization of SSBP1-related optic atrophy and foveopathy

Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutiniz...

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Main Authors: Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-98150-1

Internet

https://doi.org/10.1038/s41598-021-98150-1

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