Bietti's crystalline dystrophy

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

Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive[2] eye disease named after G. B. Bietti.[3]

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

  1. ^ Online Mendelian Inheritance in Man (OMIM): 210370
  2. ^ Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (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. PMC 1181977. PMID 15042513.
  3. ^ Bietti G (1937). "Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen". Klinische Monatsblätter für Augenheilkunde. 99: 737–757.
  4. ^ Furusato E, Cameron JD, Chan CC (2010). "Evolution of Cellular Inclusions in Bietti's Crystalline Dystrophy". Ophthalmol Eye Dis. 2010 (2): 9–15. doi:10.4137/OED.S2821. PMC 3045089. PMID 21359135.
  5. ^ Sahu, DK; Rawoof, AB (2002). "Bietti's crystalline dystrophy". Indian J Ophthalmol. 50 (4). Medknow: 330–332. PMID 12532504.
  6. ^ Welch, RB (1977). "Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy". Trans Am Ophthalmol Soc. 75: 164–79. PMC 1311548. PMID 306693.