Skip to main content

06.08.2018 | Cornea | Ausgabe 11/2018 Open Access

Graefe's Archive for Clinical and Experimental Ophthalmology 11/2018

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

Graefe's Archive for Clinical and Experimental Ophthalmology > Ausgabe 11/2018
Anna Sarosiak, Monika Udziela, Aneta Ścieżyńska, Dominika Oziębło, Anna Wawrzynowska, Jacek P. Szaflik, Monika Ołdak



Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic variant in the UBIAD1 gene and present clinical and molecular findings in Polish patients with SCD.


Individuals (n = 37) originating from four Polish SCD families were subjected for a complete ophthalmological check-up and genetic testing. Corneal changes were visualized by slit-lamp examination, anterior segment optical coherent tomography (AS-OCT), and in vivo confocal microscopy (IVCM).


In a proband with primarily mild SCD that progressed rapidly at the end of the fifth decade of life, a novel missense pathogenic variant in UBIAD1 (p.Thr120Arg) was identified. The other studied SCD family represents the second family reported worldwide with the UBIAD1 p.Asp112Asn variant. SCD in the remaining two families resulted from a frequently identified p.Asn102Ser pathogenic variant. All affected subjects presented a crystalline form of SCD. The severity of corneal changes was age-dependent, and their morphology and localization are described in detail.


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.

Unsere Produktempfehlungen

e.Med Interdisziplinär


Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf Zusätzlich können Sie eine Zeitschrift Ihrer Wahl in gedruckter Form beziehen – ohne Aufpreis.

Über diesen Artikel

Weitere Artikel der Ausgabe 11/2018

Graefe's Archive for Clinical and Experimental Ophthalmology 11/2018 Zur Ausgabe

Neu im Fachgebiet Augenheilkunde

01.03.2019 | Leitlinien, Stellungnahmen und Empfehlungen | Ausgabe 4/2019

Empfehlungen bei progredienter Myopie im Kindes- und Jugendalter

Stellungnahme von DOG und BVA. Stand Dezember 2018

19.02.2019 | Refraktionsfehler | CME | Ausgabe 3/2019 Open Access