Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants

Anna Sarosiak,Monika Udziela,Aneta Ścieżyńska,Dominika Oziębło, Anna Wawrzynowska,Jacek P. Szaflik,Monika Ołdak

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie（2018）

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摘要

The novel p.Thr120Arg is the fourth SCD-causing variant lying within the FARM motif of the UBIAD1 protein, which underlines a high importance of this motif for SCD pathogenesis. The current study provides independent evidence for the pathogenic potential of UBIAD1 p.Asp112Asn and new information useful for clinicians.

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关键词

Schnyder corneal dystrophy, UBIAD1, Confocal microscopy, Optical coherent tomography, Pathogenic variant

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