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Trait

Iris transillumination defect

Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.

HPO HP:0012805

Summary

Body system
Abnormality of the eye

14 genes linked to Iris transillumination defect

Changes in these genes cause rare conditions in which Iris transillumination defect 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.

GeneHow often it is seenConditions
BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5AlwaysIn 1 condition
CHRDL1chordin like 1AlwaysIn 1 condition
DCTdopachrome tautomeraseAlwaysIn 1 condition
HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2AlwaysIn 1 condition
LRMDAleucine rich melanocyte differentiation associatedAlwaysIn 1 condition
ADAMTSL4ADAMTS like 4Often (30–79%)In 1 condition
COL18A1collagen type XVIII alpha 1 chainOften (30–79%)In 1 condition
CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8Often (30–79%)In 1 condition
HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3Often (30–79%)In 1 condition
MC1Rmelanocortin 1 receptorOften (30–79%)In 1 condition
MITFmelanocyte inducing transcription factorOften (30–79%)In 1 condition
OCA2OCA2 melanosomal transmembrane proteinOften (30–79%)In 1 condition
C1QTNF5C1q and TNF related 5Sometimes (5–29%)In 1 condition
BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3Not recordedIn 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 iris pigmentation

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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