Rare diseases · Sign or symptom
Retinal arterial tortuosity
HP:0000631
What it means
The presence of an increased number of twists and turns of the retinal artery.
Normal retinal blood vessels are straight or gently curved. In some diseases, the blood vessels become tortuous, i.e. they become dilated and take on a serpentine path. The dilation is caused by radial stretching of the blood vessel and the serpentine path occurs because of longitudinal stretching. The tortuosity may be focal, occurring only in a small region of retinal blood vessels, or it may involve the entire retinal vascular tree.
Rare diseases that can present with this1
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Retinal artery tortuousity
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.