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Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

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Optical coherence tomography (OCT) and OCT angiography (OCTA) revealed structural and microvascular changes in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) chorioretinopathy. Deeper retinal layers and choriocapillaris are significantly impacted, aiding disease monitoring.

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Area of Science:

  • Ophthalmology
  • Medical Imaging
  • Genetics

Background:

  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder.
  • Chorioretinopathy is a known complication of LCHADD, affecting vision.
  • Characterizing these changes is crucial for understanding disease progression.

Purpose of the Study:

  • To characterize structural and microvascular alterations in LCHADD chorioretinopathy.
  • Utilize optical coherence tomography (OCT) and OCT angiography (OCTA) for detailed analysis.
  • Correlate imaging findings with clinical metrics.

Main Methods:

  • Evaluated 36 eyes from 19 LCHADD patients across six severity stages.
  • Acquired macular scans using OCT and OCTA devices.
  • Measured retinal and choroidal thickness; calculated vessel density (VD) and nonperfusion area (NPA) in four vascular plexuses.
  • Correlated imaging metrics with LCHADD severity, visual acuity, and plasma acylcarnitines.

Main Results:

  • Observed outer retinal and choroidal thinning, with significant VD loss and NPA in deeper layers at severe stages.
  • Outer retinal/choroidal thickness correlated with clinical metrics.
  • VD/NPA in deep capillary plexus and choriocapillaris correlated with LCHADD severity and visual acuity.
  • Choriocapillaris VD/NPA associated with plasma acylcarnitines.

Conclusions:

  • Combined OCT/OCTA effectively visualizes and quantifies LCHADD chorioretinopathy.
  • Pathology predominantly affects deeper retinal plexuses.
  • OCT/OCTA parameters can enhance understanding and monitoring of LCHADD progression.