Details of Disease

General Information of Disease (ID: DIS5SQDR)

• Disease Name: Reis-Bucklers corneal dystrophy
• Synonyms: corneal dystrophy of Bowman Layer, type 1; corneal dystrophy Reis Bucklers type; corneal dystrophy, REIS-Bucklers type; Reis Bucklers corneal dystrophy; corneal dystrophy geographic; CDB1; Reis-Bcklers corneal dystrophy; corneal dystrophy, geographic; CDRB; Reis Bucklers dystrophy; granular corneal dystrophy, type 3; geographic corneal dystrophy; Reis-Bucklers corneal dystrophy; atypical granular corneal dystrophy; granular corneal dystrophy type III; anterior limiting membrane dystrophy type 1; superficial granular corneal dystrophy; corneal dystrophy of Bowman layer type I; RBCD; granular corneal dystrophy type 3; anterior limiting membrane dystrophy type I; corneal dystrophy of Bowman layer type 1
• Definition: Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
• Disease Hierarchy:
  DISPFJ0G: Superficial corneal dystrophy
  DISZSUUG: Epithelial-stromal TGFBI dystrophy
  DIS5SQDR: Reis-Bucklers corneal dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0012043
  MESH ID: C535476
  UMLS CUI: C0339278
  OMIM ID: 608470
  MedGen ID: 83284
  Orphanet ID: 98961
  SNOMED CT ID: 231930000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGFBI	OTR443C5	Definitive	Autosomal dominant	[1]

References

• [1] BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54.