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Recurrent corneal erosions may occur. The hallmark of Schnyder corneal dystrophy is the accumulation of crystals within the corneal stroma which cause corneal clouding typically in a ring-shaped fashion. [citation needed] Posterior corneal dystrophies – Fuchs corneal dystrophy presents during the fifth or sixth decade of life. The ...
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.
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.
Tumor-associated calcium signal transducer 2, also known as Trop-2 and as epithelial glycoprotein-1 antigen (EGP-1) [5] is a protein that in humans is encoded by the TACSTD2 gene. [6] [7] [8] This intronless gene is located at the short arm of chromosome 1 (1p32.1). [9] It encodes a carcinoma-associated antigen defined by the monoclonal ...
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 ...
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 ...
It is produced by corneal keratocytes [11] and is thought to play a role of a dynamic buffer of corneal hydration. In a rare progressive disorder called macular corneal dystrophy (MCDC), the synthesis of keratan sulfate is either absent (MCDC type I) or abnormal (MCDC type II).
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 ...