American Journal of Ophthalmology
Volume 139, Issue 5 , Pages 894-899 , May 2005

Screening for Mutations in CYP4V2 Gene in Japanese Patients With Bietti’s Crystalline Corneoretinal Dystrophy

,Accepted 29 November 2004.

References 

  1. Bietti G . Ueber familiares Vorkmmen von Retinitis punctata albescence (Verbunden mit “ Dystrophia marginalis cristallinea cornea) . Glitzen des Glaskopers und andeen degenerativen Augenveranderungen Klin Mbl Augenhelik . 1937;99:737–756
  2. Welch RB . Bietti’s tapetoretinal degeneration with marginal corneal dystrophy . Trans Am Ophthalmol Soc . 1977;75:164–179
  3. Bagolini B , Ioli-Spada G . Bietti’s tapetoretinal degeneration with marginal corneal dystrophy . Am J Ophthalmol . 1968;65:53–60
  4. Francois J , de Laey JJ . Bietti’s crystalline fundus dystrophy . Ann Ophthalmol . 1978;10:709–716
  5. Grizzard WS , Deutman AF , Nijhuis F , de Kerk AA . Crystalline retinopathy (Bietti’s tapetoretinal degeneration without marginal corneal dystrophy) . Am J Ophthalmol . 1978;86:81–82
  6. Jiao X , Munier FL , Iwata F , et al.   Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35 . Am J Hum Genet . 2000;67:1309–1313
  7. 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
  8. Marmor MF , Arden GB , Nilson SEG , Zrenner E . Standard for clinical electroretinography . Arch Ophthalmol . 1989;107:816–819
  9. Lee J , Jiao X , Hejtmancik JF , et al.   The metabolism of fatty acids in human Bietti crystalline dystrophy . Invest Ophthalmol Vis Sci . 2001;42:1707–1714
  10. Kaiser-Kupfer MI , Chan CC , Markello TC , et al.   Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy . Am J Ophthalmol . 1994;118:569–582
  11. Yanagi Y , Tamaki Y , Takahashi H , et al.   Clinical and functional findings in crystalline retinopathy . Retina . 2004;24:267–274

PII: S0002-9394(04)01485-0

doi: 10.1016/j.ajo.2004.11.065

American Journal of Ophthalmology
Volume 139, Issue 5 , Pages 894-899 , May 2005

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