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Article

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

Molecular vision - 29 Jul 2009

Jing Yang, Liu Chun, Xu Junmin, Wang Liya

Abstract excerpt

PURPOSE: To identify the molecular defect causing Schnyder crystalline corneal dystrophy (SCCD) in a Chinese family with bilateral corneal abnormalities. METHODS: The Chinese SCCD family was subjected to a complete ophthalmic examination that included slit-lamp examination and slit-lamp photography to assess and document the crystalline deposits and arcus lipoides. In vivo laser scanning confocal microscopy and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19649163
PMCID: PMC2718742

Genes

UBIAD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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