Trait

Abnormal pupillary light reflex

An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.

HPO HP:0007695

Body system: Abnormality of the eye

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17 genes linked to Abnormal pupillary light reflex

Changes in these genes cause rare conditions in which Abnormal pupillary light reflex is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
ALMS1ALMS1 centrosome and basal body associated protein	Often (30–79%)	In 1 condition
CABP4calcium binding protein 4	Often (30–79%)	In 1 condition
KCNJ13potassium inwardly rectifying channel subfamily J member 13	Often (30–79%)	In 1 condition
LCA5lebercilin LCA5	Often (30–79%)	In 1 condition
LRATlecithin retinol acyltransferase	Often (30–79%)	In 1 condition
OTX2orthodenticle homeobox 2	Often (30–79%)	In 1 condition
PRPH2peripherin 2	Often (30–79%)	In 1 condition
RPE65retinoid isomerohydrolase RPE65	Often (30–79%)	In 1 condition
SPATA7spermatogenesis associated 7	Often (30–79%)	In 1 condition
ATF6activating transcription factor 6	Sometimes (5–29%)	In 1 condition
CNGA3cyclic nucleotide gated channel subunit alpha 3	Sometimes (5–29%)	In 1 condition
CNGB3cyclic nucleotide gated channel subunit beta 3	Sometimes (5–29%)	In 1 condition
GNAT2G protein subunit alpha transducin 2	Sometimes (5–29%)	In 1 condition
PDE6Cphosphodiesterase 6C	Sometimes (5–29%)	In 1 condition
PDE6Hphosphodiesterase 6H	Sometimes (5–29%)	In 1 condition
RPGRretinitis pigmentosa GTPase regulator	Sometimes (5–29%)	In 1 condition
SH3TC2SH3 domain and tetratricopeptide repeats 2	Sometimes (5–29%)	In 2 conditions

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.

Narrower traits

Slow pupillary light response46 genes

Broader traits

Abnormal pupillary function

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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