title: [Disorders of the extracellular matrix in epithelial-stromal and stromal corneal dystrophies].
abstract: The human cornea is rich in extracellular matrix. The stroma constitutes the main thickness of the cornea, which consists of collagens and proteoglycans mainly. The epithelial-stromal and stromal dystrophies of the cornea are either autosomal dominant or recessive inherited disorders, which are unrelated to inflammation or trauma. The diseases can manifest in each layer of the cornea, but in most cases the corneal stroma is affected. Generally, they develop in childhood or young adulthood but the diagnosis is only possible when clinical signs (epithelial erosions, decreased visual acuity, photophobia) develop. The different protein aggregates (hyaline, amyloid, crystalline) deposited in the corneal layers result in mild or advanced corneal opacity and loss of the corneal transparency due to disorganisation of the extracellular matrix. In some of the corneal dystrophies the keratane sulphate proteoglycan looses its function which results in a loss of the regular interfibrillar spacing. Due to the severe corneal opacity patients may need corneal transplantation. Orv. Hetil., 2016, 157(33), 1299-1303.
authors: Patológiai Intézet, Neuropatológiai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.
authors: Gréta
authors: G
authors: Varkoly
authors: Patológiai Intézet, Neuropatológiai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.
authors: János
authors: J
authors: Bencze
authors: Szemklinika, Debreceni Egyetem, Klinikai Központ Debrecen, Nagyerdei krt. 98., 4032.
authors: László
authors: L
authors: Módis
authors: Patológiai Intézet, Neuropatológiai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.
authors: Tibor
authors: T
authors: Hortobágyi
mesh_terms: D000682:Amyloid / Q000378:metabolism; D003094:Collagen / Q000378:metabolism; D003315:Cornea / Q000378:metabolism / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D003318:Corneal Opacity / Q000175:diagnosis* / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D003459:Crystallins / Q000378:metabolism; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D005109:Extracellular Matrix / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D020795:Photophobia / Q000209:etiology; D011509:Proteoglycans / Q000378:metabolism; D014792:Visual Acuity
chemical_list: D000682:Amyloid; D003459:Crystallins; D011509:Proteoglycans; D003094:Collagen
keywords: cornea; corneal dystrophy; corneal extracellular matrix; cornealis dystrophia; cornealis extracelluláris mátrix