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Bietti crystalline dystrophy

Disease definition

A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.

ORPHA:41751

Classification level: Disorder
  • Synonym(s):
    • BCD
    • Bietti crystalline corneoretinal dystrophy
    • Bietti crystalline retinopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: H35.5
  • ICD-11: 9B61
  • OMIM: 210370
  • UMLS: C1859486
  • MeSH: C535440
  • GARD: 10050
  • MedDRA: -

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

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

Newborn screening

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.