Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings

Arch Ophthalmol. 2012 Nov;130(11):1470-3. doi: 10.1001/archophthalmol.2012.1567.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Corneal Dystrophies, Hereditary / diagnosis
  • Corneal Dystrophies, Hereditary / genetics*
  • Cytochrome P-450 Enzyme System / genetics
  • Cytochrome P450 Family 4
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Electroretinography
  • Genetic Testing
  • Humans
  • Male
  • Mutation
  • Retina / pathology*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Siblings*
  • Tomography, Optical Coherence

Substances

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

Supplementary concepts

  • Bietti Crystalline Dystrophy