Traits

Traits linked to RPE65

retinoid isomerohydrolase RPE65

The Human Phenotype Ontology links 74 traits to RPE65, 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
Difficulties with night vision	Always
Involuntary, rapid, rhythmic eye movements	Always
Undetectable light- and dark-adapted electroretinogram	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal optic disc morphology	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%)
Marked vision impairment	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 color vision	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormal macular morphology	Often (30–79%)
Abnormal pupillary light reflex	Often (30–79%)
Absent foveal reflex	Often (30–79%)
Bulging cornea	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Farsightedness	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%)
Retinal pigment epithelial mottling	Often (30–79%)
Slow pupillary light response	Often (30–79%)
Undetectable electroretinogram	Often (30–79%)
Abnormal corneal endothelium morphology	Sometimes (5–29%)
Atrophic fundus lesion	Sometimes (5–29%)
Blurred vision	Sometimes (5–29%)
Chorioretinal atrophy	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Granular macular appearance	Sometimes (5–29%)
Macular pseudocoloboma	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Posterior synechiae of the anterior chamber	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Retinal pigment epithelial atrophy	Sometimes (5–29%)
Rhegmatogenous retinal detachment	Rarely (1–4%)
Nummular pigmentation of the retina	Not recorded
Pigmentary retinopathy	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%)
Cerebellar vermis hypoplasia	Not recorded

Abnormality of the ear

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

Abnormality of the cardiovascular system

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

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 RPE65 and how often each is seen. Find out more at hpo.jax.org.

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