KEGG   DISEASE: Lattice corneal dystrophies
Entry
H00956                      Disease                                
Name
Lattice corneal dystrophies
  Subgroup
Amyloidosis, Finnish type [DS:H02322]
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). LCD associated with the mutations in the TGFBI gene has been reported.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00956  Lattice corneal dystrophies
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A70  Hereditary corneal dystrophies
     H00956  Lattice corneal dystrophies
Gene
TGFBI [HSA:7045] [KO:K19519]
Other DBs
ICD-11: 9A70.Y
ICD-10: H18.5
OMIM: 122200 608471
Reference
PMID:19236704
  Authors
Klintworth GK
  Title
Corneal dystrophies.
  Journal
Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7
Reference
PMID:18214787
  Authors
Poulaki V, Colby K
  Title
Genetics of anterior and stromal corneal dystrophies.
  Journal
Semin Ophthalmol 23:9-17 (2008)
DOI:10.1080/08820530701745173
Reference
PMID:16900028
  Authors
Pieramici SF, Afshari NA
  Title
Genetics of corneal dystrophies: the evolving landscape.
  Journal
Curr Opin Ophthalmol 17:361-6 (2006)
DOI:10.1097/01.icu.0000233955.94347.84
Reference
PMID:15531312
  Authors
Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK
  Title
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
  Journal
Am J Ophthalmol 138:772-81 (2004)
DOI:10.1016/j.ajo.2004.06.021
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