+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy



Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy



Cornea 29(7): 777-780



To determine whether central discoid corneal dystrophy (CDCD), previously reported as a novel corneal dystrophy, is actually Schnyder corneal dystrophy (SCD) through screening of the UBIAD1 gene in the members of the family in which CDCD was reported. Genetic analysis was performed in 3 affected members and 1 unaffected member of a pedigree with CDCD including the affected 31-year-old proband. All 4 affected members of the described pedigree demonstrated discoid central corneal clouding, with subtle, superficial, crystalline deposits noted in one of the affected individuals. Screening of UBIAD1 in the affected individuals demonstrated a previously unreported missense mutation, p.Asp240Asn, which was not identified in an unaffected family member or in 100 control individuals. The clinical findings of the family reported to have CDCD were indistinguishable from those found in SCD. However, CDCD was originally thought to be distinct from SCD because of the absence of positive lipid staining and the presence of alcian blue staining consistent with glycosaminoglycans in the proband's cornea. Our recent investigation has revealed that corneal specimens from other patients with SCD have also demonstrated staining for glycosaminoglycans. Discovery that mutations in UBIAD1 caused SCD allowed genetic testing of this CDCD family. Our newly reported UBIAD1 mutation suggests that CDCD is actually a variant of SCD. This report underscores the utility of genetic testing in determining whether newly described corneal dystrophies are in fact unique entities or just variants of well-known diseases.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 054619382

Download citation: RISBibTeXText

PMID: 20489584

DOI: 10.1097/ico.0b013e3181c84bcf


Related references

Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology 2016: 1968493, 2016

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. Molecular Vision 17: 2685-2692, 2012

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. Plos One 5(5): E10760, 2010

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Molecular Vision 15: 1463-1469, 2009

Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy. Zhonghua Yi Xue Za Zhi 92(45): 3215-3217, 2013

Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F). Middle East African Journal of Ophthalmology 18(1): 61-64, 2011

Linkage analysis in granular corneal dystrophy groenouw i schnyder's crystalline corneal dystrophy and reis buecklers' corneal dystrophy. Graefe's Archive for Clinical and Experimental Ophthalmology 227(6): 538-540, 1989

Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. Cornea 37(5): 554-559, 2018

Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. British Journal of Ophthalmology 93(7): 926-931, 2009

Schnyder corneal dystrophy-associated UBIAD1 Inhibits ER-associated degradation of HMG CoA reductase in mice. Elife 8, 2019

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. Bmc Ophthalmology 18(1): 250, 2018

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. Graefe's Archive for Clinical and Experimental Ophthalmology 256(11): 2127-2134, 2018

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Investigative Ophthalmology and Visual Science 48(11): 5007-5012, 2007

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. Plos One 2(8): E685, 2007

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. American Journal of Medical Genetics. Part a 146a(3): 271-283, 2008