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Multimodal retinal vessel analysis in CADASIL patients.

Florian Alten1, Jeremias Motte2, Carina Ewering2

  • 1Department of Ophthalmology, University of Muenster Medical Center, Muenster, Germany.

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|November 6, 2014
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Summary

High-resolution retinal imaging revealed significant changes in vessel morphology in Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients. Spectral-domain optical coherence tomography (SD-OCT) shows promise for diagnosing and monitoring this small-vessel disease.

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Area of Science:

  • Ophthalmology
  • Neurology
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small-vessel disease affecting the brain.
  • Retinal microvascular changes may reflect the systemic pathophysiology of CADASIL.

Purpose of the Study:

  • To investigate retinal findings and vascular alterations in CADASIL patients using advanced imaging techniques.
  • To assess the utility of high-resolution retinal imaging in understanding CADASIL pathophysiology.

Main Methods:

  • Confocal scanning laser ophthalmoscopy (cSLO) and spectral-domain optical coherence tomography (SD-OCT) were performed on 14 CADASIL patients and 14 controls.
  • Retinal nerve fibre layer (RNFL) thickness, vessel diameters, and wall thickness were measured using cSLO and SD-OCT.

Main Results:

  • CADASIL patients exhibited arteriovenous nicking (78.6%) and venous dilation (85.7%).
  • Manual SD-OCT measurements showed significantly increased arterial and venous outer diameters and wall thicknesses in CADASIL patients compared to controls.
  • RNFL measurements indicated a global increase in thickness in CADASIL patients.

Conclusions:

  • The observed retinal vascular changes in CADASIL patients align with known pathophysiological mechanisms.
  • SD-OCT is a valuable tool for diagnosing and monitoring cerebral small-vessel diseases like CADASIL.