Traits

Traits linked to PRPF3

pre-mRNA processing factor 3

The Human Phenotype Ontology links 35 traits to PRPF3, 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%)
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%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Spicular pigmentation of the retina	Very often (80–99%)
Visual impairment	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%)
Cystoid macular edema	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	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%)
Decreased clarity of vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Blind spot	Not recorded
Progressive visual field defects	Not recorded
Rod-cone dystrophy	Not recorded

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%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Focal retinal arteriolar constriction	Not recorded

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 PRPF3 and how often each is seen. Find out more at hpo.jax.org.

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