Bietti's crystalline dystrophy

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Bietti's crystalline dystrophy
OMIM 210370
DiseasesDB 33427

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Bietti's crystalline dystrophy (BCD), also called Bietti's crystalline retinopathy, is a rare autosomal recessive eye disease named for Dr. G. B. Bietti.[1]

BCD is a rare disease and appears to be more common in people with Asian ancestry.

Presentation

The symptoms of BCD include: crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and visual field constriction.

Bietti's crystalline dystrophy has an autosomal recessive pattern of inheritance.

Genetics

It has been associated with CYP4V2.[2]

References

  1. Bietti, G. Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen. Klin. Mbl. Augenheilk. 99: 737-757, 1937.
  2. Li A, Jiao X, Munier FL; et al. (2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am. J. Hum. Genet. 74 (5): 817–26. doi:10.1086/383228. PMID 15042513.

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