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Trait

Macular pseudocoloboma

A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.

HPO HP:0001116

Summary

Also called
Coloboma of the macula, Macular coloboma
Body system
Abnormality of the eye

16 genes linked to Macular pseudocoloboma

Changes in these genes cause rare conditions in which Macular pseudocoloboma 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
DHX38DEAH-box helicase 38AlwaysIn 1 condition
NMNAT1nicotinamide nucleotide adenylyltransferase 1AlwaysIn 2 conditions
CLDN19claudin 19Very often (80–99%)In 2 conditions
MMACHCmetabolism of cobalamin associated COften (30–79%)In 1 condition
PRPS1phosphoribosyl pyrophosphate synthetase 1Often (30–79%)In 1 condition
TENM3teneurin transmembrane protein 3Often (30–79%)In 1 condition
ALMS1ALMS1 centrosome and basal body associated proteinSometimes (5–29%)In 1 condition
CABP4calcium binding protein 4Sometimes (5–29%)In 1 condition
CRB1crumbs cell polarity complex component 1Sometimes (5–29%)In 1 condition
KCNJ13potassium inwardly rectifying channel subfamily J member 13Sometimes (5–29%)In 1 condition
LCA5lebercilin LCA5Sometimes (5–29%)In 1 condition
LRATlecithin retinol acyltransferaseSometimes (5–29%)In 1 condition
OTX2orthodenticle homeobox 2Sometimes (5–29%)In 1 condition
PRPH2peripherin 2Sometimes (5–29%)In 1 condition
RPE65retinoid isomerohydrolase RPE65Sometimes (5–29%)In 1 condition
SPATA7spermatogenesis associated 7Sometimes (5–29%)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 macular morphology

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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