Login / Signup

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

Semra Tiryaki DemirSumeyra Keles YesiltasHakan KacarEmine Betül AkbasDilek Guven
Published in: Ophthalmic genetics (2020)
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.
Keyphrases
  • optical coherence tomography
  • diabetic retinopathy
  • optic nerve
  • high resolution
  • blood flow
  • room temperature
  • case report
  • early onset
  • gene expression
  • mass spectrometry
  • single cell
  • ultrasound guided