Lattice corneal dystrophy type I
Última actualización 18 Aug 2020
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Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.
Descripción
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.
Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Biber-Haab-Dimmer dystrophy
Related patient information and medicines
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Problemas oculares
See the leaflet called Anatomy of the eye for details on the structure of the eye. Distrofias corneales These are a grupo of progressive conditions which cause a build-up de cloudy material in the cornea. See... Retinal dystrophy Retinal dystrophies are a group of inherited disorders which result in changes to the retina, which may affect vision;.
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Problemas visuales
It explains what symptoms might be expected and what can be done about them. There is currently no treatment which stops the progress of the condition, although complete loss of vision... Retinal dystrophy Retinal dystrophies are a group of inherited (genetic) disorders which result in changes to the retina which may affect vision. They are fairly.
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Trastornos del almacenamiento de glucógeno
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Enfermedad ósea de Paget
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Pruebas genéticas
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Lecturas adicionales y referencias
- Lattice corneal dystrophy type I; MedlinePlus, National Library of Medicine.
- Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006 Jul;27(7):615-25. doi: 10.1002/humu.20334.
- Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7.
- Liu Z, Wang YQ, Gong QH, Xie LX. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. Mol Vis. 2008 Jun 30;14:1234-9.
- Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. doi: 10.1038/ng0397-247.
- Schmitt-Bernard CF, Chavanieu A, Derancourt J, Arnaud B, Demaille JG, Calas B, Argiles A. In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53. doi: 10.1006/bbrc.2000.2955.
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