Traits

Traits linked to RDH5

retinol dehydrogenase 5

The Human Phenotype Ontology links 21 traits to RDH5, 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 light- and dark-adapted electroretinogram	Very often (80–99%)
Absent foveal reflex	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Progressive loss of vision	Very often (80–99%)
Yellow/white retinal lesion	Very often (80–99%)
Blind spot located at fixation point	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Progressive night blindness	Often (30–79%)
Progressive visual field defects	Often (30–79%)
Retinal pigment epithelial mottling	Often (30–79%)
Abnormal fundus pigmentation	Sometimes (5–29%)
Cystoid macular edema	Sometimes (5–29%)
Lenticonus	Sometimes (5–29%)
Macular atrophy	Sometimes (5–29%)
Retinal atrophy	Sometimes (5–29%)
Pigmentary retinopathy	Rarely (1–4%)
Fundus albipunctatus	Not recorded
Retinal flecks	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	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 RDH5 and how often each is seen. Find out more at hpo.jax.org.

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