Traits

Traits linked to VSX1

visual system homeobox 1

The Human Phenotype Ontology links 36 traits to VSX1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Anterior synechiae of the anterior chamber	Always
Abnormal Descemet membrane morphology	Very often (80–99%)
Reduced number of corneal endothelial cells	Very often (80–99%)
Band keratopathy	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
High eye pressure	Often (30–79%)
Optic disc pallor	Often (30–79%)
Underdeveloped iris	Often (30–79%)
Wide-set eyes	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Increased corneal curvature	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Uveal ectropion	Sometimes (5–29%)
Very low visual acuity	Sometimes (5–29%)
Abnormality of tear production	Rarely (1–4%)
Blurred vision	Rarely (1–4%)
Chorioretinal atrophy	Rarely (1–4%)
Corneal opacity	Rarely (1–4%)
Displaced pupil	Rarely (1–4%)
Extreme sensitivity of the eyes to light	Rarely (1–4%)
Eye pain	Rarely (1–4%)
Glaucoma	Rarely (1–4%)
Inward turning cross eyed	Rarely (1–4%)
Abnormal electroretinogram	Not recorded
Bulging cornea	Not recorded
Ocular anterior segment dysgenesis	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Always
Dizziness	Often (30–79%)
Severe sensorineural hearing impairment	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Headache	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Nasofrontal encephalocele	Often (30–79%)
Posterior fossa cyst	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Small pituitary gland	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Corneal stromal edema	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to VSX1 and how often each is seen. Find out more at hpo.jax.org.

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