Trait

Absent pigmentation in the eye

Clinical name: Ocular albinism

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.

HPO HP:0001107

Also called: Albinism, Ocular
Body system: Abnormality of the eye

This page as data

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library(jsonlite)

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page <- fromJSON(url)
page$trait$name

Open the JSON

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29 genes linked to Absent pigmentation in the eye

Changes in these genes cause rare conditions in which Absent pigmentation in the eye 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
AP3D1adaptor related protein complex 3 subunit delta 1	Always	In 3 conditions
BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3	Always	In 1 condition
BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5	Always	In 1 condition
BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6	Always	In 1 condition
DTNBP1dystrobrevin binding protein 1	Always	In 1 condition
GPR143G protein-coupled receptor 143	Always	In 2 conditions
HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	Always	In 1 condition
SOX10SRY-box transcription factor 10	Always	In 1 condition
LYSTlysosomal trafficking regulator	Very often (80–99%)	In 2 conditions
TYRtyrosinase	Very often (80–99%)	In 2 conditions
SLC45A2solute carrier family 45 member 2	Often (30–79%)	In 1 condition
CASZ1castor zinc finger 1	Sometimes (5–29%)	In 1 condition
GABRDgamma-aminobutyric acid type A receptor subunit delta	Sometimes (5–29%)	In 1 condition
HSPG2heparan sulfate proteoglycan 2	Sometimes (5–29%)	In 1 condition
KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2	Sometimes (5–29%)	In 1 condition
LUZP1leucine zipper protein 1	Sometimes (5–29%)	In 1 condition
MMP23Bmatrix metallopeptidase 23B	Sometimes (5–29%)	In 1 condition
PDPNpodoplanin	Sometimes (5–29%)	In 1 condition
PRDM16PR/SET domain 16	Sometimes (5–29%)	In 1 condition
PRKCZprotein kinase C zeta	Sometimes (5–29%)	In 1 condition
REREarginine-glutamic acid dipeptide repeats	Sometimes (5–29%)	In 1 condition
SKISKI proto-oncogene	Sometimes (5–29%)	In 1 condition
SPENspen family transcriptional repressor	Sometimes (5–29%)	In 1 condition
UBE4Bubiquitination factor E4B	Sometimes (5–29%)	In 1 condition
AP3B1adaptor related protein complex 3 subunit beta 1	Not recorded	In 1 condition
EPG5ectopic P-granules 5 autophagy tethering factor	Not recorded	In 1 condition
HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	Not recorded	In 1 condition
HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	Not recorded	In 1 condition
HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	Not recorded	In 1 condition

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.

Broader traits

Abnormal fundus morphology Light eye color

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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