KEGG   DISEASE: H00956Help
Entry
H00956                      Disease                                

Name
Lattice corneal dystrophies (LCD), including:
Biber-Haab-Dimmer dystrophy;
Familial amyloid polyneuropathy type IV;
Meretoja syndrome
Description
Lattice corneal dystrophy (LCD), the most common of the stromal cornea dystrophies, is an autosomal dominant dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). Clinically and histologically there are several types of two genetically distinct inherited LCD so far. One with no systemic manifestations is caused by specific mutations in the TGFBI gene (LCD type I and its variants); the other resulting from a mutation in the GSN gene (LCD type II) has systemic manifestations.
Category
Eye disease
BRITE hierarchy
Pathway
Regulation of actin cytoskeleton
Gene
(LCDI, LCDIII) TGFBI [HSA:7045]
(LCDII) GSN [HSA:2934] [KO:K05768]
Comment
For LCD type II, see also [DS:H00845].
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:19236704 (description, gene)
  Authors
Klintworth GK
  Title
Corneal dystrophies.
  Journal
Orphanet J Rare Dis 4:7 (2009)
Reference
PMID:18214787 (description, gene)
  Authors
Poulaki V, Colby K
  Title
Genetics of anterior and stromal corneal dystrophies.
  Journal
Semin Ophthalmol 23:9-17 (2008)
Reference
PMID:16900028 (description, gene)
  Authors
Pieramici SF, Afshari NA
  Title
Genetics of corneal dystrophies: the evolving landscape.
  Journal
Curr Opin Ophthalmol 17:361-6 (2006)

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