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Central cloudy dystrophy of François

Disease definition

Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.

ORPHA:98972

Classification level: Disorder
  • Synonym(s):
    • CCDF
    • Central cloudy corneal dystrophy of François
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H18.5
  • ICD-11: 9A70.Y
  • OMIM: 217600
  • UMLS: C1622427
  • MeSH: C563262
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

The prevalence of this form of corneal dystrophy is unknown.

Clinical description

Lesions generally appear in the first decade of life; subjects with the condition are mostly asymptomatic. The course of the disease is non-progressive.

Etiology

Etiology is unknown.

Differential diagnosis

Corneal changes are very similar to Vogt posterior crocodile shagreen, a corneal degenerative disease.

Genetic counseling

Autosomal dominant inheritance has been reported.

Expert reviewer(s):  Dr Gordon KLINTWORTH - Last update: May 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Greek (2012, pdf)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.