Results 11 to 20 of about 406 (136)

Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. [PDF]

PLoS Genet, 2019
Schnyder corneal dystrophy (SCD) is a rare genetic eye disease characterized by corneal opacification resulted from deposition of excess free cholesterol. UbiA prenyltransferase domain-containing protein-1 (UBIAD1) is an enzyme catalyzing biosynthesis of
Jiang SY, Tang JJ, Xiao X, Qi W, Wu S, Jiang C, Hong J, Xu J, Song BL, Luo J.   +9 more
europepmc   +3 more sources

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort. [PDF]

Mol Genet Genomic Med, 2022
Genetic testing in 58 individuals from 44 families with a clinical diagnosis of corneal dystrophy yielded a molecular diagnosis in 70.5% of families using a gene candidate and exome sequencing approach. Abstract Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders.
Souzeau E, Siggs OM, Mullany S, Schmidt JM, Hassall MM, Dubowsky A, Chappell A, Breen J, Bae H, Nicholl J, Hadler J, Kearns LS, Staffieri SE, Hewitt AW, Mackey DA, Gupta A, Burdon KP, Klebe S, Craig JE, Mills RA.   +19 more
europepmc   +2 more sources

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3 [PDF]

Cornea, 2019
Purpose: To report a simultaneous occurrence of 2 rare corneal dystrophies. Methods: A 30-year-old man with a family history of posterior polymorphous corneal dystrophy type 3 (PPCD3) was invited for ophthalmic examination.
Dudakova, L, Skalicka, P, Davidson, A, Liskova, P   +3 more
core   +5 more sources

Phototherapeutic Keratectomy in Schnyder Crystalline Corneal Dystrophy

Cornea, 2004
To emphasize the effectiveness of phototherapeutic keratectomy (PTK) in a patient with Schnyder crystalline corneal dystrophy (SCCD).Case report.Two eyes of a patient with SCCD underwent PTK. Best corrected visual acuity (BCVA) increased from 2/10 to 8/10 (plano/-1.50 x 10) in the right eye in a lit room.
Kargi, S, Akata, F, Gurelik, G, Koksal, M   +3 more
openaire   +5 more sources

Peripheral Center Sparing Presentation of Schnyder Corneal Dystrophy

Ophthalmology, 2023
A 67-year-old White man was referred for corneal opacities observed during routine examination. He was asymptomatic with unremarkable medical and family history. Best-corrected photopic visual acuity was 20/20 bilaterally. Slit-lamp examination of both eyes showed arcuate paracentral subepithelial crystals extending centripetally from the midperipheral
Busin, Massimo, Santoro, Massimo M, Weiss, Jayne S   +2 more
openaire   +5 more sources

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

PLoS ONE, 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 ...
Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, Mark Samuels   +16 more
doaj   +2 more sources

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

Molecular Genetics and Metabolism Reports, 2014
Heterozygous mutations in the UBIAD1 gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea.
Carlos R. Morales, Lubov S. Grigoryeva, Xuefang Pan, Luigi Bruno, Gilles Hickson, Michael H. Ngo, Christopher R. McMaster, Mark E. Samuels, Alexey V. Pshezhetsky   +8 more
doaj   +2 more sources

Crystalline Subtype of Pre-Descemetic Corneal Dystrophy

Journal of Ophthalmic & Vision Research, 2014
Purpose: To report corneal findings in a familial case of the crystalline subtype of pre- Descemetic corneal dystrophy. Case Report: A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored ...
Rosa Dolz-Marco, Roberto Gallego-Pinazo, María Dolores Pinazo-Durán2, Manuel Díaz-Llopis   +3 more
doaj   +1 more source

Schnyder Corneal Dystrophy: A Rare Case Report

Nepalese Journal of Ophthalmology, 2020
Introduction: 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. The clinical signs can change as the patient ages.
Kurtul, Bengi Ece, Elbeyli, Ahmet, Ozcan, Deniz Ozarslan, Ozcan, Sait Coskun, Karaaslan, Abdulkerim   +4 more
openaire   +4 more sources

A case of familial hypercholesterolemia associated with Schnyder's corneal dystrophy.

Nihon Naika Gakkai Zasshi, 1988
角膜にコレステロール結晶の沈着するまれな遺伝性疾患であるSchnyder's corneal dystrophyを伴った家族性高コレステロール血症(FH)の1例を経験した.症例は41才男性で父に高コレステロール血症と角膜混濁を認める.患者は小学校時代より両角膜の混濁に気付くも放置.
KAJINAMI, Kouji, INAZU, Akihiro, WAKASUGI, Takanobu, KOIZUMI, Junji, MABUCHI, Hiroshi, TAKEDA, Ryoyu   +5 more
core   +6 more sources