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Trait

Retinal thinning

Clinical name: Retinal thinning on OCT

Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).

HPO HP:0030329

Summary

Body system
Abnormality of the eye

23 genes linked to Retinal thinning

Changes in these genes cause rare conditions in which Retinal thinning 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
FDXRferredoxin reductaseAlwaysIn 1 condition
FSD1Lfibronectin type III and SPRY domain containing 1 likeAlwaysIn 1 condition
NRLneural retina leucine zipperAlwaysIn 1 condition
PCYT1Aphosphate cytidylyltransferase 1A, cholineAlwaysIn 2 conditions
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)AlwaysIn 1 condition
RIMS2regulating synaptic membrane exocytosis 2AlwaysIn 1 condition
SAGS-antigen visual arrestinAlwaysIn 1 condition
SLC6A6solute carrier family 6 member 6AlwaysIn 1 condition
UBAP1Lubiquitin associated protein 1 likeAlwaysIn 1 condition
ABCA4ATP binding cassette subfamily A member 4Very often (80–99%)In 1 condition
CNGB3cyclic nucleotide gated channel subunit beta 3Very often (80–99%)In 1 condition
ELOVL4ELOVL fatty acid elongase 4Very often (80–99%)In 1 condition
PROM1prominin 1Very often (80–99%)In 1 condition
PRPH2peripherin 2Very often (80–99%)In 1 condition
CNGA3cyclic nucleotide gated channel subunit alpha 3Often (30–79%)In 1 condition
HLA-Amajor histocompatibility complex, class I, AOften (30–79%)In 1 condition
RPGRIP1RPGR interacting protein 1Often (30–79%)In 1 condition
CYP4V2cytochrome P450 family 4 subfamily V member 2Sometimes (5–29%)In 1 condition
ALDH3A2aldehyde dehydrogenase 3 family member A2Not recordedIn 1 condition
CFAP418cilia and flagella associated protein 418Not recordedIn 1 condition
COL2A1collagen type II alpha 1 chainNot recordedIn 1 condition
KIF3Bkinesin family member 3BNot recordedIn 1 condition
LAMA1laminin subunit alpha 1Not 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.

Narrower traits

Broader traits

Abnormal anteroposterior retina thickness on OCT

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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