Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene

Jpn J Ophthalmol. 2013 Sep;57(5):447-50. doi: 10.1007/s10384-013-0256-6. Epub 2013 Jun 22.

Abstract

Background: We report the optical coherence tomography (OCT) findings of crystalline deposits in the cornea and lens of a patient with Bietti crystalline dystrophy (BCD), thus providing evidence for a better understanding of the pathophysiology of BCD.

Patient: A 49-year-old man showing typical chorioretinal degeneration with a CYP4V2 mutation was diagnosed with BCD.

Observations: The anterior segment OCT images clearly showed flat hyperreflective plaques just beneath the corneal epithelium and in the lens epithelium. The crystals were not located on the outer surface of the lens capsule as previously described but on the inner surface of the anterior capsule.

Conclusions: This finding suggests that the crystals in the lens of patients with BCD may be produced in the same way as corneal or retinal crystalline deposits and therefore result from a systemic abnormality of lipid metabolism rather than by previously considered possibilities, such as release from the retina adhering to the lens capsule.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cornea / metabolism
  • Cornea / pathology*
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / metabolism
  • Corneal Dystrophies, Hereditary / pathology*
  • Cytochrome P-450 Enzyme System / genetics*
  • Cytochrome P450 Family 4
  • Fluorescein Angiography
  • Humans
  • Lens, Crystalline / metabolism
  • Lens, Crystalline / pathology*
  • Lipid Metabolism*
  • Male
  • Middle Aged
  • Mutation*
  • Polymerase Chain Reaction
  • Retinal Diseases / genetics*
  • Retinal Diseases / metabolism
  • Retinal Diseases / pathology*
  • Tomography, Optical Coherence*
  • Visual Acuity

Substances

  • Cytochrome P-450 Enzyme System
  • CYP4V2 protein, human
  • Cytochrome P450 Family 4

Supplementary concepts

  • Bietti Crystalline Dystrophy