Trait

Macular atrophy

A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.

HPO HP:0007401

Body system: Abnormality of the eye

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47 genes linked to Macular atrophy

Changes in these genes cause rare conditions in which Macular atrophy 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
CDH3cadherin 3	Always	In 1 condition
DHX38DEAH-box helicase 38	Always	In 1 condition
NMNAT1nicotinamide nucleotide adenylyltransferase 1	Always	In 2 conditions
OTX2orthodenticle homeobox 2	Always	In 1 condition
SLC6A6solute carrier family 6 member 6	Always	In 1 condition
UBAP1Lubiquitin associated protein 1 like	Always	In 1 condition
YARS1tyrosyl-tRNA synthetase 1	Always	In 1 condition
ATF6activating transcription factor 6	Very often (80–99%)	In 1 condition
GUCY2Dguanylate cyclase 2D, retinal	Very often (80–99%)	In 2 conditions
ARL2BPARF like GTPase 2 binding protein	Often (30–79%)	In 1 condition
BBS5Bardet-Biedl syndrome 5	Often (30–79%)	In 1 condition
CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin	Often (30–79%)	In 1 condition
CNNM4cyclin and CBS domain divalent metal cation transport mediator 4	Often (30–79%)	In 1 condition
FSD1Lfibronectin type III and SPRY domain containing 1 like	Often (30–79%)	In 1 condition
GUCA1Aguanylate cyclase activator 1A	Often (30–79%)	In 2 conditions
IFT140intraflagellar transport 140	Often (30–79%)	In 1 condition
LZTFL1leucine zipper transcription factor like 1	Often (30–79%)	In 1 condition
PRPH2peripherin 2	Often (30–79%)	In 3 conditions
RPGRIP1RPGR interacting protein 1	Often (30–79%)	In 2 conditions
RS1retinoschisin 1	Often (30–79%)	In 1 condition
SAMD7sterile alpha motif domain containing 7	Often (30–79%)	In 1 condition
UNC119unc-119 lipid binding chaperone	Often (30–79%)	In 1 condition
C1QTNF5C1q and TNF related 5	Sometimes (5–29%)	In 1 condition
CFHcomplement factor H	Sometimes (5–29%)	In 1 condition
CFIcomplement factor I	Sometimes (5–29%)	In 1 condition
EFEMP1EGF-like fibulin extracellular matrix protein 1	Sometimes (5–29%)	In 1 condition
KCNV2potassium voltage-gated channel modifier subfamily V member 2	Sometimes (5–29%)	In 1 condition
PCYT1Aphosphate cytidylyltransferase 1A, choline	Sometimes (5–29%)	In 2 conditions
PLK4polo like kinase 4	Sometimes (5–29%)	In 1 condition
PRPF31pre-mRNA processing factor 31	Sometimes (5–29%)	In 1 condition
RDH5retinol dehydrogenase 5	Sometimes (5–29%)	In 1 condition
RHOrhodopsin	Sometimes (5–29%)	In 1 condition
RLBP1retinaldehyde binding protein 1	Sometimes (5–29%)	In 1 condition
RP9RP9 pre-mRNA splicing factor	Sometimes (5–29%)	In 1 condition
EPG5ectopic P-granules 5 autophagy tethering factor	Rarely (1–4%)	In 1 condition
AIPL1AIP like 1 HSP90 co-chaperone	Not recorded	In 1 condition
CFAP418cilia and flagella associated protein 418	Not recorded	In 1 condition
DRAM2DNA damage regulated autophagy modulator 2	Not recorded	In 1 condition
ELOVL4ELOVL fatty acid elongase 4	Not recorded	In 1 condition
GBA1glucosylceramidase beta 1	Not recorded	In 1 condition

Show 7 more genes

Gene	How often it is seen	Conditions
HK1hexokinase 1	Not recorded	In 1 condition
MAPKAPK3MAPK activated protein kinase 3	Not recorded	In 1 condition
MERTKMER proto-oncogene, tyrosine kinase	Not recorded	In 1 condition
NRLneural retina leucine zipper	Not recorded	In 1 condition
RAX2retina and anterior neural fold homeobox 2	Not recorded	In 1 condition
SIX6SIX homeobox 6	Not recorded	In 1 condition
WDR19WD repeat domain 19	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.

Narrower traits

Macular scar5 genes

Broader traits

Macular degeneration Retinal atrophy

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 2026.10.17-8666dff2.

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