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Article

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Nov 2018

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

Abstract excerpt

PURPOSE: 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. METHODS: Individuals (n = 37) originating from four Polish SCD families were subjected for a complete...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 30084067
DOI: 10.1007/s00417-018-4075-9
PMCID: PMC6208719

Genes

SCD
UBIAD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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