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Posterior corneal dystrophy
Disease definition
Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.
ORPHA:98627
Classification level: Group of disorders- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive
- Age of onset: All ages
- ICD-10: -
- OMIM: -
- UMLS: C2063478
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence of this group of corneal dystrophies is unknown.
Clinical description
Age of onset is variable. Five subtypes of posterior CD have been identified and include: Fuchs endothelial CD, Posterior polymorphous CD, Congenital hereditary endothelial dystrophy I and II, and X-linked endothelial CD (see these terms).
Etiology
Posterior corneal dystrophies, like other corneal dystrophies, appear to be genetic disorders. Although the various subtypes have mostly been described in detail, a relationship between some of them has been suggested on the basis of molecular genetic data. There is both phenotypic and allelic heterogeneity. Mutations in the following genes have been found in association with posterior CD: COL8A2 (1p34.2-p32.3), SLC4A11 (20p12), VSX1 (20p11.21), and ZEB1 (10p11.22).
Genetic counseling
Transmission is autosomal dominant or recessive, or X-linked recessive depending on the type.
A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)
Detailed information
Disease review articles
- Review article
- English (2009) - Orphanet J Rare Dis
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produced/endorsed by FSMR(s)Additional information