Traits

Traits linked to USH2A

usherin

The Human Phenotype Ontology links 48 traits to USH2A, 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
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Blind spot	Very often (80–99%)
Blindness	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Light eye color	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Rod-cone dystrophy	Very often (80–99%)
Spicular pigmentation of the retina	Very often (80–99%)
Visual impairment	Very often (80–99%)
Visual loss	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Bulging cornea	Often (30–79%)
Close sighted	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Limited peripheral vision	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Reduced contrast sensitivity	Sometimes (5–29%)
Partial loss of field of vision	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormality of the inner ear	Very often (80–99%)
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Abnormal vestibular function	Rarely (1–4%)
Congenital sensorineural hearing impairment	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Difficulty sleeping	Often (30–79%)
Abnormality of balance	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Very often (80–99%)
Narrowing of blood vessels in back of eye	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Often (30–79%)

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 USH2A and how often each is seen. Find out more at hpo.jax.org.

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