Traits

Traits linked to RAX2

retina and anterior neural fold homeobox 2

The Human Phenotype Ontology links 24 traits to RAX2, 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
Limited peripheral vision	Always
Abnormal retinal pigmentation	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Optic disc pallor	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Blind spot located at fixation point	Often (30–79%)
Color blindness	Often (30–79%)
Perifoveal ring of hyperautofluorescence	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Retinal atrophy	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Bull's eye maculopathy	Not recorded
Cone/cone-rod dystrophy	Not recorded
Macular atrophy	Not recorded
Macular degeneration	Not recorded
Slow decrease in sharpness of vision	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always

Abnormality of the integument

Trait	How often it is seen
Paleness	Not recorded

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 RAX2 and how often each is seen. Find out more at hpo.jax.org.

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