Optic Disc Features in Familial Retinal Arteriolar Tortuosity

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.