Rare diseases · Sign or symptom
Astigmatism
Abnormal curving of the cornea or lens of the eye
HP:0000483
What it means
A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision.
Rare diseases that can present with this69
Very common80–99%
6Common30–79%
16- 9q33.3q34.11microdeletion syndrome
- Angelman syndrome
- Autosomal recessive spastic paraplegia type 75
- Brittle cornea syndrome
- Congenital microcoria
- Costello syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Gorlin-Chaudhry-Moss syndrome
- Hermansky-Pudlak syndrome
- Lattice corneal dystrophy type I
- Musculocontractural Ehlers-Danlos syndrome
- Non-syndromic unicoronal craniosynostosis
- Sotos syndrome
- Stickler syndrome
- Trisomy 8p syndrome
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
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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.