Rare diseases · Sign or symptom
Abnormality of refraction
HP:0000539
What it means
An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
Rare diseases that can present with this17
Common30–79%
9- Acute zonal occult outer retinopathy
- Autosomal dominant keratitis
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Bothnia retinal dystrophy
- Congenital fibrosis of extraocular muscles
- FOXP1 Syndrome
- Oculocutaneous albinism type 2
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Sometimes5–29%
5The 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.