Results 21 to 30 of about 406 (136)
Differential Diagnosis of Schnyder Corneal Dystrophy
, 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. SCD is inherited as an autosomal dominant trait with high penetrance and has been mapped to the UBIAD1 gene on chromosome 1p36.3.
Jayne S, Weiss, Arbi J, Khemichian
openaire +3 more sources
Evidence of oxidative stress in Schnyder corneal dystrophy
British Journal of Ophthalmology, 2010 Schnyder corneal dystrophy (SCD) is a rare, autosomal, dominantly inherited corneal disorder affecting the central and peripheral cornea and is characterised by cholesterol and phospholipid deposition in the corneal epithelium and stroma, leading to progressive corneal opacification, which may result in glare and disproportionate loss of photopic ...
Z, Gatzioufas +6 more
openaire +3 more sources
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. [PDF]
Graefes Arch Clin Exp Ophthalmol, 2018 Sarosiak A +6 more
europepmc +2 more sources
Corneal dystrophies related to cholesterol metabolism (fish eye and Schnyder dystrophy)
Acta Ophthalmologica, 2014 AbstractSchnyder corneal dystrophy (SCD) is a rare corneal dystrophy characterized by abnormally increased deposition of cholesterol and phospholipids in the cornea. SCD is inherited as an autosomal dominant trait with high penetrance and has been mapped to the UBIAD1 gene on chromosome 1p36.3.
P KESTELYN
openaire +2 more sources
Corneal Crystalline Dystrophy of Schnyder
Archives of Ophthalmology, 1974 R. G. Michaels
openaire +3 more sources
Bilateral Lipid Keratopathy in the Setting of Brimonidine Tartrate Use
Case Reports in Ophthalmological Medicine, Volume 2023, Issue 1, 2023., 2023 Lipid keratopathy (LK) is a rare disease involving lipid deposition in the cornea resulting in corneal opacification. Primary LK can arise sporadically while secondary LK is seen in patients with a history of ocular trauma, medication exposure, infection, inflammation, or disorders resulting in derangements of lipid metabolism.
Majid Moshirfar +7 more
wiley +1 more source
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. [PDF]
Sci Rep, 2018 AbstractSchnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene.
Dong F +17 more
europepmc +4 more sources
Schnyder Corneal Dystrophy in an Adolescent: A Case Report With Multimodal Imaging. [PDF]
CureusSchnyder corneal dystrophy (SCD) is a rare, autosomal dominant, bilateral corneal dystrophy characterized by progressive deposition of cholesterol and phospholipids within the central corneal stroma. The condition is associated with pathogenic variants in the UBIAD1 gene, responsible for lipid metabolism.
Bombuy Gimenez J +2 more
europepmc +4 more sources
Synthesis of Seco‐Analogues of the DHCR24 Inhibitor SH‐42
European Journal of Organic Chemistry, Volume 2020, Issue 39, Page 6270-6288, October 22, 2020., 2020 Seco‐steroidal analogues of DHCR24 inhibitor SH‐42 were synthesised, starting from ergocalciferol‐derived perhydroindanes mimicking rings C and D. Ring A equivalents were attached to C‐4 and C‐5 positions. In a project aimed at the further development of the potent steroidal anti‐inflammatory Δ24‐dehydrocholesterol reductase (DHCR24) inhibitor SH‐42 we
Desirée Heerdegen +6 more
wiley +1 more source