Bietti's crystalline dystrophy
Bietti's crystalline dystrophy is a rare autosomal recessive eye disease named after G. B. Bietti.
BCD is a rare disease and appears to be more common in people with Asian ancestry.
Presentation
Symptoms of BCD include:- Crystals in the cornea
- Yellow, shiny deposits on the retina
- Progressive atrophy of the retina, choriocapillaries and choroid. This tends to lead to progressive night blindness and visual field constriction.
Genetics
BCD is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry 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.
The nematode C. elegans has a duplicated gene that are orthologous of the human gene.
These genes code for cytochrome P450s involved in fatty acid synthesis.