of Schnyder Crystalline Corneal Dystrophy

A hereditary corneal dystrophy characterized by abnormal deposition of cholesterol and phospholipids in the cornea, resulting in progressive and bilateral opacity. Affected individuals experience glare and loss of vision due to light scattering. The opacity begins early in life as an oval shaped clouding in the center of the cornea; only half of patients have crystalline corneal cholesterol deposits. It is caused by a mutation in the transitional epithelia response (TERE1/UBIAD1) gene. OMIM: 121800

Also Known As:

Networked: 30 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Eye Diseases (Eye Disease)
2.	Hereditary Corneal Dystrophies
3.	Dyslipidemias (Dyslipidemia)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Blindness (Hysterical Blindness)

Experts

1.	Weiss, Jayne S: 7 articles (05/2018 - 11/2007)
2.	DeBose-Boyd, Russell A: 5 articles (01/2020 - 03/2015)
3.	Kruth, Howard S: 5 articles (01/2018 - 11/2007)
4.	Nickerson, Michael L: 5 articles (01/2018 - 11/2007)
5.	Schumacher, Marc M: 4 articles (01/2020 - 03/2015)
6.	Jun, Dong-Jae: 3 articles (01/2020 - 01/2016)
7.	Jo, Youngah: 3 articles (01/2019 - 03/2015)
8.	Oziębło, Dominika: 2 articles (03/2021 - 11/2018)
9.	Ołdak, Monika: 2 articles (03/2021 - 11/2018)
10.	Sarosiak, Anna: 2 articles (03/2021 - 11/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to of Schnyder Crystalline Corneal Dystrophy:

1.	Dimethylallyltranstransferase (Dimethylallyltransferase)IBA 05/01/2014 - "The aim of this study was to analyze the corneal morphology features and define mutations in the UbiA prenyltransferase domain-containing 1 (UBIAD1) gene in patients with Schnyder corneal dystrophy from a Polish population. " 01/01/2011 - "To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). " 05/21/2010 - "UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy." 08/01/2007 - "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy." 05/01/2018 - "To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation. "
2.	CholesterolIBA 01/01/2022 - "Genetic variations of UBIAD1 are mainly associated with Schnyder corneal dystrophy (SCD), a disease characterized by abnormal accumulation of cholesterol in the cornea. " 01/01/2019 - "Autosomal-dominant Schnyder corneal dystrophy (SCD) is characterized by corneal opacification owing to overaccumulation of cholesterol. " 03/05/2015 - "Schnyder corneal dystrophy (SCD) is an autosomal dominant disorder in humans characterized by abnormal accumulation of cholesterol in the cornea. " 02/01/2013 - "Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity. " 01/01/2019 - "Schnyder corneal dystrophy (SCD) is a rare genetic eye disease characterized by corneal opacification resulted from deposition of excess free cholesterol. "
3.	Phospholipids (Phosphatides)FDA LinkGeneric 01/01/2020 - "Schnyder corneal dystrophy (SCD) is a rare, autosomal dominant, anterior stromal dystrophy described as progressive bilateral corneal opacification due to abnormal accumulation of cholesterol and phospholipids in the cornea. " 01/01/2014 - "Heterozygous mutations in the UBIAD1 gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. " 02/01/2008 - "Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. " 11/01/2007 - "Schnyder crystalline corneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characterized by an abnormal increase in cholesterol and phospholipid deposition in the cornea, leading to progressive corneal opacification. " 01/01/2011 - "Schnyder corneal dystrophy (SCD) is a rare corneal dystrophy characterized by abnormally increased deposition of cholesterol and phospholipids in the cornea leading to progressive vision loss. "
4.	LipidsIBA 03/01/2021 - "Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by corneal lipid accumulation and caused by UBIAD1 pathogenic variants. " 11/01/2018 - "Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. " 07/09/2008 - "To analyze for the presence of lipids in conjunctival fibroblasts of a patient with Schnyder corneal dystrophy (SCD). " 06/15/1998 - "Schnyder crystalline corneal dystrophy is thought to be a primary abnormality of corneal lipid metabolism, resulting in opacification secondary to lipid accumulation. " 08/01/2007 - "Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. "
5.	Proteins (Proteins, Gene)FDA Link 02/01/2008 - "Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function." 01/01/2023 - "We aimed to identify pathogenic variations in the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in a Japanese family with Schnyder corneal dystrophy (SCD). " 01/01/2023 - "UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy." 07/01/2014 - "In humans, missense mutations to the protein UbiA prenyltransferase domain-containing 1 (UBIAD1) are responsible for Schnyder crystalline corneal dystrophy, which is a genetic disease that causes blindness. "
6.	Oxidoreductases (Dehydrogenase)IBA 01/01/2018 - "Mutant UBIAD1 variants associated with Schnyder corneal dystrophy (SCD), a human disorder characterized by corneal accumulation of cholesterol, resist GGpp-induced release from reductase and remain sequestered in the ER to block reductase ERAD. " 01/01/2016 - "Mutant forms of UBIAD1 associated with Schnyder corneal dystrophy (SCD), a human eye disease characterized by corneal accumulation of cholesterol, are sequestered in the ER and block reductase degradation. "
7.	Hydroxymethylglutaryl CoA Reductases (HMG CoA Reductase)IBA 01/01/2019 - "Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice." 01/01/2019 - "Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase."
8.	Vitamin K 2 (Vitamin K2)IBA 01/01/2020 - "The autosomal dominant disorder Schnyder corneal dystrophy (SCD) is caused by mutations in UbiA prenyltransferase domain-containing protein-1 (UBIAD1), which uses geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K2 subtype menaquinone-4 (MK-4). "
9.	Vitamin KFDA Link 03/01/2021 - "High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health."
10.	Serine (L-Serine)FDA Link 12/04/2012 - "A missense mutation c.305A > G in 1 exon of UBIAD1 gene resulting in a substitution of Asparagine to Serine at codon 102 (p.Asn102Ser) was found in all affected members of the family who were clinically diagnosed as Schnyder corneal dystrophy while not in the unaffected members of the family and controls. "

Therapies and Procedures

1.	Keratectomy 04/01/2023 - "We report a case of Schnyder corneal dystrophy (SCD) treated with deep phototherapeutic keratectomy (PTK). " 04/01/2023 - "Deep phototherapeutic keratectomy for Schnyder corneal dystrophy." 04/01/2004 - "To emphasize the effectiveness of phototherapeutic keratectomy (PTK) in a patient with Schnyder crystalline corneal dystrophy (SCCD). " 04/01/2004 - "Phototherapeutic keratectomy in Schnyder crystalline corneal dystrophy."
2.	Excimer Lasers 05/01/1998 - "[Possibilities of therapeutic photokeratotomy with the excimer laser in treatment of Schnyder crystalline corneal dystrophy]."
3.	Penetrating Keratoplasty 05/01/2018 - "Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy." 05/01/2018 - "To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation. "