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Computer-assisted retinal vessel diameter evaluation in Fabry disease.

Andrea Sodi1, Cristina Nicolosi1, Giulio Vicini1

  • 1Department of Surgery and Translational Medicine, Eye Clinic, Careggi University Hospital, University of Florence, Florence, Italy.

European Journal of Ophthalmology
|November 14, 2019
PubMed
Summary

Quantitative analysis revealed significantly narrower retinal vessels in Fabry disease patients compared to controls. This objective assessment aids in early diagnosis and monitoring of Fabry disease vascular abnormalities.

Keywords:
Retinal pathology/researchanatomy/biochemistry/physiologygenetic disease/congenital abnormalitiesretinatechniques of retinal examination

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Imaging

Background:

  • Fabry disease is a rare genetic disorder with known ocular manifestations.
  • Retinal vascular abnormalities, including vessel narrowing and tortuosity, are characteristic of Fabry disease.
  • Quantitative assessment of these changes is crucial for diagnosis and monitoring.

Purpose of the Study:

  • To quantitatively evaluate retinal vessel diameter in Fabry disease patients using dedicated software.
  • To establish a quantitative marker for retinal vascular network abnormalities in Fabry disease.
  • To compare retinal vessel diameters between Fabry disease patients and healthy controls.

Main Methods:

  • Observational case-control study.
  • Analysis of peripapillary vessels, temporal vascular arcades, and second-order collaterals.
  • Semiautomatic software used on digital fundus images from 8 Fabry disease patients and 8 controls.
  • Mann-Whitney test for statistical comparison.

Main Results:

  • Fabry disease patients exhibited significantly smaller average vessel diameters across all evaluated vessel types compared to controls.
  • Retinal vessel size reduction was 10.9% for peripapillary vessels, 7.8% for temporal arcades, and 7.4% for collaterals.
  • The most pronounced differences were observed in the larger retinal vessels.

Conclusions:

  • Computer-assisted analysis demonstrates narrower retinal arteries in Fabry disease patients.
  • Semiautomatic assessment of retinal vessel attenuation is a reproducible and objective method for evaluating vascular alterations.
  • This non-invasive tool can aid in early diagnosis and disease monitoring of Fabry disease.