Traits

Traits linked to CNGB3

cyclic nucleotide gated channel subunit beta 3

The Human Phenotype Ontology links 42 traits to CNGB3, 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
Extreme sensitivity of the eyes to light	Always
Involuntary, rapid, rhythmic eye movements	Always
Moderate visual impairment	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 macular pigmentation	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Abnormality of refraction	Very often (80–99%)
Abnormality of visual evoked potentials	Very often (80–99%)
Blind spot located at fixation point	Very often (80–99%)
Color vision test abnormality	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Inner retinal layer loss on macular OCT	Very often (80–99%)
Macular degeneration	Very often (80–99%)
Paroxysmal involuntary eye movements	Very often (80–99%)
Pendular nystagmus	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%)
Total colorblindness	Very often (80–99%)
Undetectable light-adapted electroretinogram	Very often (80–99%)
Visual impairment	Very often (80–99%)
Absent foveal reflex	Often (30–79%)
Achromatopsia	Often (30–79%)
Aplasia/Hypoplasia of the macula	Often (30–79%)
Close sighted	Often (30–79%)
Color blindness	Often (30–79%)
Farsightedness	Often (30–79%)
Hypoplasia of the fovea	Often (30–79%)
Photopsia	Often (30–79%)
Yellow/white macular lesion	Often (30–79%)
Abnormal macular morphology	Sometimes (5–29%)
Abnormal pupillary light reflex	Sometimes (5–29%)
Eccentric visual fixation	Sometimes (5–29%)
Clouding of the lens of the eye	Not recorded
Horizontal pendular nystagmus	Not recorded
Marked vision impairment	Not recorded
Severe near sightedness	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	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 CNGB3 and how often each is seen. Find out more at hpo.jax.org.

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