Trait
Breakdown of light-sensitive cells in back of eye
Clinical name: Retinal dystrophy
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Breakdown of light-sensitive cells in back of eye, and the rest of your genome, with one test.
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Get my Genome Test127 genes linked to Breakdown of light-sensitive cells in back of eye
Changes in these genes cause rare conditions in which Breakdown of light-sensitive cells in back of eye 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 |
|---|---|---|
| ACO2aconitase 2 | Always | In 1 condition |
| ARL6ARF like GTPase 6 | Always | In 2 conditions |
| ARV1ARV1 fatty acid homeostasis modulator | Always | In 1 condition |
| BBIP1BBSome interacting protein 1 | Always | In 2 conditions |
| BBS1Bardet-Biedl syndrome 1 | Always | In 2 conditions |
| BBS10Bardet-Biedl syndrome 10 | Always | In 2 conditions |
| BBS12Bardet-Biedl syndrome 12 | Always | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Always | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Always | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Always | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Always | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Always | In 1 condition |
| CEP19centrosomal protein 19 | Always | In 1 condition |
| CEP290centrosomal protein 290 | Always | In 3 conditions |
| CFAP410cilia and flagella associated protein 410 | Always | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Always | In 1 condition |
| DAG1dystroglycan 1 | Always | In 3 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IFT172intraflagellar transport 172 | Always | In 1 condition |
| IFT27intraflagellar transport 27 | Always | In 1 condition |
| IFT74intraflagellar transport 74 | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Always | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 2 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| NPHP1nephrocystin 1 | Always | In 3 conditions |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| RCBTB1RCC1 and BTB domain containing protein 1 | Always | In 1 condition |
| RDH11retinol dehydrogenase 11 | Always | In 1 condition |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Always | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Always | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Always | In 2 conditions |
| TMEM218transmembrane protein 218 | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TRIM32tripartite motif containing 32 | Always | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Always | In 1 condition |
Show 87 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TUBTUB bipartite transcription factor | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Always | In 1 condition |
| AHI1Abelson helper integration site 1 | Very often (80–99%) | In 2 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Very often (80–99%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 2 conditions |
| CEP120centrosomal protein 120 | Very often (80–99%) | In 1 condition |
| CEP164centrosomal protein 164 | Very often (80–99%) | In 1 condition |
| CEP41centrosomal protein 41 | Very often (80–99%) | In 2 conditions |
| COL4A1collagen type IV alpha 1 chain | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 1 condition |
| FKRPfukutin related protein | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 1 condition |
| IFT54intraflagellar transport 54 | Very often (80–99%) | In 2 conditions |
| INPP5Einositol polyphosphate-5-phosphatase E | Very often (80–99%) | In 4 conditions |
| INVSinversin | Very often (80–99%) | In 1 condition |
| IQCB1IQ motif containing B1 | Very often (80–99%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| NPHP3nephrocystin 3 | Very often (80–99%) | In 1 condition |
| NPHP4nephrocystin 4 | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Very often (80–99%) | In 1 condition |
| POMKprotein O-mannose kinase | Very often (80–99%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Very often (80–99%) | In 1 condition |
| TMEM138transmembrane protein 138 | Very often (80–99%) | In 2 conditions |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 2 conditions |
| TMEM231transmembrane protein 231 | Very often (80–99%) | In 1 condition |
| TMEM237transmembrane protein 237 | Very often (80–99%) | In 1 condition |
| WDR19WD repeat domain 19 | Very often (80–99%) | In 2 conditions |
| ZNF423zinc finger protein 423 | Very often (80–99%) | In 1 condition |
| BUD13BUD13 spliceosome associated protein | Often (30–79%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Often (30–79%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| GRNgranulin precursor | Often (30–79%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 2 conditions |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Often (30–79%) | In 1 condition |
| RNF113Aring finger protein 113A | Often (30–79%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Often (30–79%) | In 2 conditions |
| VPS4Avacuolar protein sorting 4 homolog A | Often (30–79%) | In 1 condition |
| ANK1ankyrin 1 | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| BMP4bone morphogenetic protein 4 | Sometimes (5–29%) | In 2 conditions |
| CCNQcyclin Q | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CRYABcrystallin alpha B | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 1 condition |
| EXOSC3exosome component 3 | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| HID1HID1 domain containing | Sometimes (5–29%) | In 1 condition |
| IFT122intraflagellar transport 122 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| LAMA1laminin subunit alpha 1 | Sometimes (5–29%) | In 2 conditions |
| LRP2LDL receptor related protein 2 | Sometimes (5–29%) | In 2 conditions |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| PGK1phosphoglycerate kinase 1 | Sometimes (5–29%) | In 2 conditions |
| SLC19A2solute carrier family 19 member 2 | Sometimes (5–29%) | In 1 condition |
| ZPR1ZPR1 zinc finger | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rarely (1–4%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rarely (1–4%) | In 1 condition |
| NEK1NIMA related kinase 1 | Rarely (1–4%) | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Not recorded | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Not recorded | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Not recorded | In 1 condition |
| ITM2Bintegral membrane protein 2B | Not recorded | In 1 condition |
| LRATlecithin retinol acyltransferase | Not recorded | In 1 condition |
| OTX2orthodenticle homeobox 2 | Not recorded | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Not recorded | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Not recorded | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Not recorded | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Not recorded | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Not recorded | In 1 condition |
| RBP4retinol binding protein 4 | Not recorded | In 1 condition |
| RDH12retinol dehydrogenase 12 | Not recorded | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Not recorded | In 2 conditions |
| RPGRIP1LRPGRIP1 like | Not recorded | In 1 condition |
| SIX6SIX homeobox 6 | Not recorded | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | 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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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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