KEGG   DISEASE: Gelatinous drop-like corneal dystrophy
Entry
H00953                      Disease                                
Name
Gelatinous drop-like corneal dystrophy;
Corneal amyloidosis
Description
Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:H00956] may also form in the deeper stroma. GDCD has been linked to mutations in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation in the cornea.
Category
Nervous system disease
Brite
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
     H00953  Gelatinous drop-like corneal dystrophy
Gene
TACSTD2 [HSA:4070] [KO:K17288]
Other DBs
ICD-11: 9A70.Y
MeSH: C535480
OMIM: 204870
Reference
  Authors
Klintworth GK
  Title
Corneal dystrophies.
  Journal
Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7
Reference
  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
  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
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