Search results
Results from the WOW.Com Content Network
Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Mutations in TGFBI which encodes transforming growth factor beta induced cause several forms of corneal dystrophies including granular corneal dystrophy, lattice corneal dystrophy, epithelial basement membrane dystrophy, Reis-Bucklers corneal dystrophy, and Thiel ...
Thygeson's superficial punctate keratopathy (TSPK) is a disease of the eyes.The causes of TSPK are not currently known, but details of the disease were first published in the Journal of the American Medical Association in 1950 by American ophthalmologist Phillips Thygeson (1903–2002), after whom it is named.
Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. [2] The term corneal blindness is commonly used to describe blindness due to corneal opacity.
Congenital hereditary endothelial dystrophy; Congenital stromal corneal dystrophy; Cornea verticillata; Corneal abrasion; Corneal dystrophy; Corneal ectatic disorders; Corneal hydrops; Corneal neovascularization; Corneal ulcer
Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. [ 1 ] [ 2 ] [ 3 ] Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity, in severe cases requiring corneal transplants.
Corneodermatosseous syndrome is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits.
Crocodile Dundee fans are mourning the loss of movie legend Burt the Saltwater crocodile.. On Sunday, Dec. 23., a representative for Crocosaurus Cove Darwin penned a sad Facebook post which ...
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. [4] The disorder is inherited in an autosomal dominant manner. [5] This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has ...