Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy

Ophthalmic Genet. 2020 Apr;41(2):194-197. doi: 10.1080/13816810.2020.1750036. Epub 2020 Apr 13.

Abstract

Background: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder due to genetic defect in the CYP4V2 gene. BCD is a disease characterized by shiny yellow crystalline deposits in the retina with progressive atrophy of the retinal pigment epithelium and choriocapillaris. Our aim is to present ocular imaging findings of a patient with BCD.Materials and Metods: A 38-year-old female patient with BCD was evaluated and the findings of optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) were examined.Results: OCT imaging revealed multiple outer retinal tubulations (ORTs) with a few hyperreflective crystalline deposits. OCTA imaging showed that the vessel density of superficial anddeep capillary plexus and choriocapillaris blood flow were significantly decreased. ORTs were composedof multiple microtubules as finger-like protrusions that joined the macrotubules.Conclusion: In BCD, crystallinedeposits, ORTs and retinal vascular morphology can be shown in detail using OCT and OCTA.

Keywords: Choriocapillaris blood flow; crystalline deposit; outher retinal tubulation; vessel density.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Corneal Dystrophies, Hereditary / diagnostic imaging
  • Corneal Dystrophies, Hereditary / genetics
  • Cytochrome P450 Family 4 / genetics
  • Female
  • Fluorescein Angiography / methods*
  • Homozygote
  • Humans
  • Mutation
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / diagnostic imaging
  • Retinal Diseases / genetics
  • Tomography, Optical Coherence / methods*
  • Visual Acuity

Substances

  • CYP4V2 protein, human
  • Cytochrome P450 Family 4

Supplementary concepts

  • Bietti Crystalline Dystrophy