Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Bietti's crystalline dystrophy
Introduction
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
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.
References
References
- ↑ 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.
- ↑ 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.
External links
External links
- Bietti’s Crystalline Dystrophy Resource Guide from the National Eye Institute (NEI).
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]