Bietti's crystalline dystrophy
- Bietti's crystalline dystrophy
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.
Genetics
It has been associated with mutations in the "CYP4V2" gene.References
External links
* [http://www.nei.nih.gov/health/biettis/index.asp Bietti's Crystalline Dystrophy] Resource Guide from the National Eye Institute (NEI).
*RareDiseases|10050|Bietti's crystalline dystrophy
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