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Letters to the Journal

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype

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References

  • Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004;74:817–826.
  • Bietti G. Ueber familiäeres Vorkommen von “Retinitis punctata albescens” (verbunden mit “Dystrophia marginalis cristallinea corneae”), Glitzern des Glaskörpers und anderen degenerativen Augenveräenderungen. Klin Monbl Augenheilkd 1937;99:737–757.
  • Wada Y, Itabashi T, Sato H, et al. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti’s crystalline corneoretinal dystrophy. Am J Ophthalmol 2005;139:894–899.
  • Lai TY, Ng TK, Tam PO, et al. Genotype phenotype analysis of Bietti’s crystalline dystrophy in patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 2007;48:5212–5220.
  • Wang Y, Guo L, Cai SP, et al. Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. PLoS One 2012;7:e33673.

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