Traits

Traits linked to TIMP3

TIMP metallopeptidase inhibitor 3

The Human Phenotype Ontology links 19 traits to TIMP3, 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
Macular dystrophy	Very often (80–99%)
Subretinal deposits	Very often (80–99%)
Visual loss	Very often (80–99%)
Yellow/white macular lesion	Very often (80–99%)
Abnormal choroid morphology	Often (30–79%)
Abnormal fundus autofluorescence imaging	Often (30–79%)
Choriocapillaris atrophy	Often (30–79%)
Choroidal neovascularization	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Hyporeflective spaces on macular OCT	Often (30–79%)
Large central loss of field of vision	Often (30–79%)
Blindness	Sometimes (5–29%)
Chorioretinal atrophy	Sometimes (5–29%)
Marked vision impairment	Sometimes (5–29%)
Pigmentary retinopathy	Sometimes (5–29%)
Retinal atrophy	Sometimes (5–29%)
Retinal pigment epithelial atrophy	Sometimes (5–29%)
Abnormal electroretinogram	Not recorded
Glaucoma	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 TIMP3 and how often each is seen. Find out more at hpo.jax.org.

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