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Superficial corneal dystrophy
The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.
ORPHA:98625Classification level: Group of disorders
- Anterior corneal dystrophy
- Prevalence: Unknown
- Inheritance: Autosomal dominant or X-linked recessive
- Age of onset: All ages
- ICD-10: H18.5
- OMIM: -
- UMLS: C2315777
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence of this group of corneal dystrophies is unknown, but all are rare and found mainly in populations carrying the responsible mutated genes.
Age of onset is variable, between early childhood and the second decade of life. Eight subtypes of superficial corneal dystrophy have been identified: Grayson-Willbrandt CD, Epithelial recurrent erosion dystrophy, Subepithelial mucinous CD, Meesmann CD, Lisch epithelial CD, Gelatinous drop-like CD, Reis-Bücklers CD, and Thiel-Behnke CD (see these terms).
Genetic heterogeneity has been reported but all superficial corneal dystrophies appear to be genetically determined, and are usually inherited as Mendelian traits. Mutations in four genes:KRT3 (12q13.13), KRT12 (17q11-q12), TGFBI (5q31), and TACSTD2 (1p32), are currently known to cause inherited diseases that are apparently limited to the superficial cornea.
Transmission is autosomal dominant, autosomal recessive, or X-linked recessive depending on the condition.