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Congenital stromal corneal dystrophy

ORPHA101068
Synonym(s) CSCD
Congenital hereditary stromal dystrophy
Witschel dystrophy
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • H18.5
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.

Epidemiology

The exact prevalence of this corneal dystrophy is not known but it is very rare: CSCD has been reported in 4 families to date in Germany, France, Belgium and Norway.

Clinical description

Patients develop bilateral corneal lesions before birth. The flakes and spots become more numerous with age, progressively increasing the effect on vision. Corneal erosions, photophobia and corneal vascularization are absent. Some patients have strabismus or primary open-angle glaucoma.

Etiology

The etiology of this condition is not known but mutations in the DCN gene (12q23) which codes for decorin have been identified in affected patients. DCN codes for a protein that may affect the rate of fibril formation.

Diagnostic methods

The morphologic abnormalities observed in CSCD include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter.

Genetic counseling

Transmission appears to be autosomal dominant.

Management and treatment

A penetrating keratoplasty is the treatment of choice.

Expert reviewer(s)

  • Dr Gordon KLINTWORTH

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