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Optic Disc Features in Familial Retinal Arteriolar Tortuosity.

Veronika Sinner1,2, Jan Heckmann1, Veit Sturm1

  • 1Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St. Gallen, St. Gallen, Switzerland.

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|April 14, 2021
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Summary
This summary is machine-generated.

Familial retinal arteriolar tortuosity (fRAT) causes abnormal twisting of retinal arteries, including within the optic disc's blood vessels. This condition may present as a blurry optic disc with potential spontaneous hemorrhages.

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Vascular Biology

Background:

  • Familial retinal arteriolar tortuosity (fRAT) is a rare genetic disorder affecting retinal blood vessels.
  • Understanding the optic disc's appearance in fRAT is crucial for diagnosis and management.

Purpose of the Study:

  • To describe the optic disc appearance in fRAT using multimodal imaging.
  • To increase awareness of peripapillary arterial changes associated with fRAT.

Main Methods:

  • Cross-sectional study of four patients from two families.
  • Comprehensive ophthalmological examination including multimodal imaging.
  • Analysis of medical and family history.

Main Results:

  • Increased tortuosity of second- and third-order retinal arteries was observed in all patients.
  • Tortuosity extended to the peripapillary circle of Zinn-Haller.
  • Retinal vessel oximetry confirmed arterial-specific tortuosity.

Conclusions:

  • A blurry, hyperemic optic disc with tortuous arterioles and resolving hemorrhages may indicate fRAT.
  • Peripapillary arterial vessel tortuosity is a key finding in fRAT.
  • Multimodal imaging aids in identifying these characteristic vascular changes.