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Doppler Optical Coherence Tomography of Retinal Circulation
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Optical Coherence Tomography Abnormalities in NOTCH3 Mutation Carriers: A Matched Case-Control Study From UK Biobank.

Sai Krishna Vallamchetla1, Amro Badr2, Xin Li3

  • 1Department of Neurology, Mayo Clinic, Jacksonville, FL.

The Neurologist
|February 9, 2026
PubMed
Summary

NOTCH3 gene mutations are linked to thinner macular inner subfield and retinal nerve fiber layer, potentially indicating early vascular issues. Further research is needed to confirm these retinal biomarkers.

Keywords:
CADASILNOTCH3UK Biobankoptical coherence tomographyretina

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • NOTCH3 mutations are associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  • Early detection of neurological changes is crucial for managing NOTCH3-related disorders.

Purpose of the Study:

  • To identify retinal biomarkers in NOTCH3 mutation carriers using optical coherence tomography (OCT).
  • To investigate the association between NOTCH3 mutations and retinal structural changes.

Main Methods:

  • A matched case-control study using UK Biobank data (2006-2010).
  • Inclusion of 134 participants (67 cases, 67 controls) with macular OCT scans and cognitive assessments.
  • Comparison of macular thickness and retinal nerve fiber layer (RNFL) between NOTCH3 mutation carriers and controls.

Main Results:

  • NOTCH3 carriers showed thinner macular inner subfield and RNFL compared to controls.
  • No significant differences in visual acuity were observed.
  • Cognitive performance was worse in NOTCH3 carriers for prospective memory, verbal, numerical reasoning, and processing speed.

Conclusions:

  • Reduced macular inner subfield and RNFL thickness are associated with NOTCH3 mutations.
  • These retinal changes may indicate early pericyte dysfunction and microvascular ischemia.
  • Longitudinal studies are recommended to explore the relationship with disease progression.