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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 ...
Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal dystrophy and a keratin disease. MECD is characterized by the formation of microcysts in the outermost layer of the cornea, known as the anterior corneal epithelium.
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 ...
Fuchs dystrophy, also referred to as Fuchs endothelial corneal dystrophy (FECD) and Fuchs endothelial dystrophy (FED), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men. Although early signs of Fuchs dystrophy are sometimes seen in people in their 30s and 40s, the disease ...
Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye that can cause pain and dryness.EBMD, also known as map-dot-fingerprint dystrophy and Cogan microcystic epithelial dystrophy, is a corneal epithelial disease that may result in recurrent corneal erosions, irregular corneal astigmatism, and decreased vision.
Macular Corneal Dystrophy is an autosomal recessive genetic disorder caused by mutations in the carbohydrate sulfotransferase gene (CHST6), resulting in abnormal proteoglycan synthesis. The accumulation of abnormal glycosaminogycans in the corneal epithelium and stroma leads to progressive opacification of the cornea and subsequent loss of ...
Corneal opacification is a term used when the human cornea loses its transparency. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the stroma.
21810 Ensembl ENSG00000120708 ENSMUSG00000035493 UniProt Q15582 P82198 RefSeq (mRNA) NM_000358 NM_009369 RefSeq (protein) NP_000349 NP_033395 Location (UCSC) Chr 5: 136.03 – 136.06 Mb Chr 13: 56.76 – 56.79 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in ...