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Bietti crystalline dystrophy

Orpha number ORPHA41751
Synonym(s) BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset -
ICD-10
  • H15.5
ICD-O -
OMIM
UMLS -
MeSH
  • C535440
MedDRA -

Summary

Bietti's crystalline dystrophy (BCD) is 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.


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Detailed information

Clinical genetics review
  • EN (2012)
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