- Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy first described by Bietti in 1937.3
- Numerous tiny glistening yellow-white crystals in the posterior pole with RPE atrophy and hypertrophy along with choroidal sclerosis characterize the disorder.2
- About half the cases have similar crystals in the superficial peripheral cornea.4
- The disorder has pigmentary clumping in the retina similar to RP and similar ERG and field findings.5
- BCD is caused by a mutation in the novel gene CYP4V2.6,7,8,9
- The crystals appear to be cholesterol or cholesterol ester and complex lipid in nature5 but not obviously associated with metabolic disease.10
- FORTs (Freund’s Outer Retinal Tubulations) appear to be present in some but not all retinal degenerations.1
- Both the etiology and significance of FORTs are unknown at present.