Traits

Traits linked to RS1

retinoschisin 1

The Human Phenotype Ontology links 21 traits to RS1, 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
Mizuo phenomenon	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormality of eye movement	Very often (80–99%)
Abnormality of vision	Very often (80–99%)
Glaucoma	Very often (80–99%)
Progressive loss of vision	Very often (80–99%)
Retinoschisis	Very often (80–99%)
Abnormal foveal morphology	Often (30–79%)
ERG: Reduced dark-adapted b-wave amplitude	Often (30–79%)
Hyperautofluorescent retinal lesion	Often (30–79%)
Macular atrophy	Often (30–79%)
Retinal detachment	Often (30–79%)
Retinal pigment epithelial atrophy	Often (30–79%)
Absent foveal reflex	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Difficulties with night vision	Sometimes (5–29%)
Farsightedness	Not recorded
Peripheral cystoid retinal degeneration	Not recorded
Retina degeneration	Not recorded
Retinal atrophy	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Vitreous hemorrhage	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 RS1 and how often each is seen. Find out more at hpo.jax.org.

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