Bietti's crystalline dystrophy

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Bietti's Crystalline Dystrophy
Other names	Bietti crystalline corneoretinal dystrophy[1]
Bietti's crystalline dystrophy has an autosomal recessive pattern of inheritance.

Bietti's crystalline dystrophy (BCD) is a rare

BCD is a rare disease and appears to be more common in people with Asian ancestry.[4]^[5][6]

Presentation

Symptoms of BCD include:

• Crystals in the cornea (the clear covering of the eye)
• Yellow, shiny deposits on the retina
• Progressive
  night blindness
  and visual field constriction.

Genetics

BCD is inherited in an autosomal recessive manner.

one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

BCD is associated with mutations in the CYP4V2 gene.^[2] The nematode C. elegans has a duplicated gene (cyp31A2 and cyp31A3) that are orthologous of the human gene. These genes code for cytochrome P450s involved in fatty acid synthesis.^[7]

Diagnosis

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Treatment

At this time, there is no treatment for BCD. Genetic studies are being conducted to find treatments for patients with BCD.^[8]

References

External links

• Bietti's crystalline dystrophy at NIH's Office of Rare Diseases