Corneal Dystrophy, Lattice Type I malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases
Aliases & Descriptions for Corneal Dystrophy, Lattice Type I:
Orphanet epidemiological data:51
lattice corneal dystrophy type i:
Inheritance: Autosomal dominant; Age of onset: All ages
corneal dystrophy, lattice type i:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Rare eye diseases
NIH Rare Diseases:45 Lattice corneal dystrophy type 1 (lcd1) is an eye disorder that affects the cornea, the clear outer covering of the eye. in order to see properly, the cornea must remain clear. in lcd1, a protein, known as amyloid, builds up in a layer of the cornea called the stroma. symptoms usually become apparent in childhood or adolescence and may include separation of layers of the cornea (corneal erosions), decreased vision, photosensitivity, and eye pain. lcd1 is caused by mutations in the tgfbi gene and is inherited in an autosomal dominant manner. treatment focuses on relieving erosions with antibiotics and bandage contact lenses. if treatment is not successful and erosions become recurrent, phototherapeutic keratectomy to smooth the corneal surface and corneal transplant may be considered. last updated: 5/13/2016
MalaCards based summary: Corneal Dystrophy, Lattice Type I, also known as lattice corneal dystrophy type i, is related to cornelia de lange syndrome and cornelia de lange syndrome 1, and has symptoms including lattice corneal dystrophy, progressive visual loss and recurrent corneal erosions. An important gene associated with Corneal Dystrophy, Lattice Type I is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways is Coregulation of Androgen receptor activity. Affiliated tissues include eye.
Genetics Home Reference:23 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.
UniProtKB/Swiss-Prot:67 Corneal dystrophy, lattice type 1: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.
Description from OMIM:49 122200
MalaCards organs/tissues related to Corneal Dystrophy, Lattice Type I:33
UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Lattice Type I:67 (show all 13)
Clinvar genetic disease variations for Corneal Dystrophy, Lattice Type I:5
Search GEO for disease gene expression data for Corneal Dystrophy, Lattice Type I.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet