Traits

Traits linked to PRPH2

peripherin 2

The Human Phenotype Ontology links 116 traits to PRPH2, 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
Decreased clarity of vision	Always
Metamorphopsia	Always
Pattern dystrophy of the retina	Always
Visual impairment	Always
Vitelliform macular lesion	Always
Abnormal choroid morphology	Very often (80–99%)
Abnormal color vision	Very often (80–99%)
Abnormal electroretinogram	Very often (80–99%)
Abnormal foveal morphology	Very often (80–99%)
Abnormal light- and dark-adapted electroretinogram	Very often (80–99%)
Abnormal macular pigmentation	Very often (80–99%)
Abnormal optic disc morphology	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Abnormality of the eye	Very often (80–99%)
Abnormality of vision	Very often (80–99%)
Abnormality of visual evoked potentials	Very often (80–99%)
Absent foveal reflex	Very often (80–99%)
Blind spot located at fixation point	Very often (80–99%)
Blindness	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Full-thickness macular hole	Very often (80–99%)
Hyperautofluorescent macular lesion	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Macular degeneration	Very often (80–99%)
Marked vision impairment	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Paroxysmal involuntary eye movements	Very often (80–99%)
Progressive loss of vision	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Retinal pigment epithelial atrophy	Very often (80–99%)
Retinal pigment epithelial mottling	Very often (80–99%)
Retinal thinning	Very often (80–99%)
Spicular pigmentation of the retina	Very often (80–99%)
Yellow/white retinal lesion	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormal macular morphology	Often (30–79%)
Abnormal pupillary light reflex	Often (30–79%)
Aplasia/Hypoplasia of the macula	Often (30–79%)
Bulging cornea	Often (30–79%)
Chorioretinal scalloped atrophy	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Color blindness	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Dark choroid	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Farsightedness	Often (30–79%)
Foveal photoreceptor outer segment loss on macular OCT	Often (30–79%)
Fundus hypopigmentation	Often (30–79%)
Glaucoma	Often (30–79%)
Light eye color	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Macular atrophy	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Partial loss of field of vision	Often (30–79%)
Photopsia	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Progressive visual field defects	Often (30–79%)
Retinal atrophy	Often (30–79%)
Slow decrease in sharpness of vision	Often (30–79%)
Slow pupillary light response	Often (30–79%)
Undetectable electroretinogram	Often (30–79%)
Visual loss	Often (30–79%)
Yellow/white macular lesion	Often (30–79%)
Abnormal corneal endothelium morphology	Sometimes (5–29%)
Abnormal fundus pigmentation	Sometimes (5–29%)
Absent retinal pigment epithelium	Sometimes (5–29%)
Blurred vision	Sometimes (5–29%)
Choriocapillaris atrophy	Sometimes (5–29%)
Chorioretinal atrophy	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Drusen	Sometimes (5–29%)
Granular macular appearance	Sometimes (5–29%)
Lenticonus	Sometimes (5–29%)
Macular pseudocoloboma	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Perifoveal ring of hyperautofluorescence	Sometimes (5–29%)
Posterior synechiae of the anterior chamber	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Retinal nonattachment	Sometimes (5–29%)
Choroidal neovascularization	Rarely (1–4%)
Pigmentary retinopathy	Rarely (1–4%)
Rhegmatogenous retinal detachment	Rarely (1–4%)
Adult-onset night blindness	Not recorded
Fundus albipunctatus	Not recorded
Limited peripheral vision	Not recorded
Macular dystrophy	Not recorded
Reticular retinal dystrophy	Not recorded
Retinal flecks	Not recorded
Rod-cone dystrophy	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of neuronal migration	Often (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Often (30–79%)
Epilepsy	Often (30–79%)
Eye poking	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Balance impairment	Sometimes (5–29%)
Delayed social development	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Congenital sensorineural hearing impairment	Sometimes (5–29%)
Hearing impairment	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%)

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 PRPH2 and how often each is seen. Find out more at hpo.jax.org.

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