Results 41 to 50 of about 406 (136)
The International Committee for Classification of Corneal Dystrophies (IC3D) provides updated data to ophthalmologists by incorporating traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Recent advances
최승일, 이훈, 김응권
core +1 more source
UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy [PDF]
Background: Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in ...
Howard S Kruth +21 more
core
N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy
Purpose: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea.
김태임 +3 more
core +1 more source
Schnyder Crystalline Corneal Dystrophy: A Case Report
Schnyder crystalline corneal dystrophy (SCCD) is a rare hereditary corneal pathology, the clinical forms of which can be varied. It is classically characterized by the presence of central corneal disc or ring opacities, with or without the presence of crystals, and sometimes the association with a peripheral corneal arch or the limbic belt of Vogt. Its
El Mhadi Mohcine +3 more
openaire +1 more source
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).
Al-Ghadeer H, Mohamed JY, Khan AO.
europepmc +2 more sources
Cholesterol metabolism: physiological regulation and diseases
At present, increasing evidence suggests that abnormal cholesterol metabolism is closely related to various systemic diseases, including cardiovascular disease, tumors, neurological conditions immune system disorders, and eye diseases. Cholesterol overload caused by abnormal cholesterol metabolism can induce elevated oxidative stress, heightened ...
Jiarui Guo +8 more
wiley +1 more source
Corneal Epithelial Thickness Mapping: A Major Review
The corneal epithelium (CE) is the outermost layer of the cornea with constant turnover, relative stability, remarkable plasticity, and compensatory properties to mask alterations in the underlying stroma. The advent of quantitative imaging modalities capable of producing epithelial thickness mapping (ETM) has made it possible to characterize better ...
Mohammad-Ali Abtahi +12 more
wiley +1 more source
Quantitative analysis of lipid deposits from Schnyder's corneal dystrophy [PDF]
To report the quantitation of the lipid composition of a corneal button from a Japanese woman in her 60s with clinically and histopathologically proved Schnyder's corneal dystrophy.Total lipids extracted from the corneal button of the patient were analysed by the method of thin layer chromatography flame ionisation detection.
M, Yamada +4 more
openaire +2 more sources

