Trait

Abnormal macular morphology

A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.

HPO HP:0001103

Also called: Abnormality of the macula, Macula abnormality, Macular abnormality
Body system: Abnormality of the eye

Reference genomeGRCh38hg38

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31 genes linked to Abnormal macular morphology

Changes in these genes cause rare conditions in which Abnormal macular morphology 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
PIGAphosphatidylinositol glycan anchor biosynthesis class A	Always	In 1 condition
EDN3endothelin 3	Very often (80–99%)	In 1 condition
EDNRBendothelin receptor type B	Very often (80–99%)	In 1 condition
MITFmelanocyte inducing transcription factor	Very often (80–99%)	In 1 condition
SOX10SRY-box transcription factor 10	Very often (80–99%)	In 1 condition
ALMS1ALMS1 centrosome and basal body associated protein	Often (30–79%)	In 1 condition
AP3D1adaptor related protein complex 3 subunit delta 1	Often (30–79%)	In 1 condition
CABP4calcium binding protein 4	Often (30–79%)	In 1 condition
COG1component of oligomeric golgi complex 1	Often (30–79%)	In 1 condition
GPR143G protein-coupled receptor 143	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
NDPnorrin cystine knot growth factor NDP	Often (30–79%)	In 2 conditions
OATornithine aminotransferase	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
EPG5ectopic P-granules 5 autophagy tethering factor	Sometimes (5–29%)	In 1 condition
FZD4frizzled class receptor 4	Sometimes (5–29%)	In 1 condition
GNAT2G protein subunit alpha transducin 2	Sometimes (5–29%)	In 1 condition
LRP5LDL receptor related protein 5	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
DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic	Not recorded	In 1 condition
SMPD1sphingomyelin phosphodiesterase 1	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.

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Broader traits

Retina issue

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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