Trait
Macular dystrophy
Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.
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 Macular dystrophy, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test22 genes linked to Macular dystrophy
Changes in these genes cause rare conditions in which Macular dystrophy 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| CDH3cadherin 3 | Always | In 3 conditions |
| MFSD8major facilitator superfamily domain containing 8 | Always | In 1 condition |
| SAMD7sterile alpha motif domain containing 7 | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| CFHcomplement factor H | Very often (80–99%) | In 1 condition |
| CFIcomplement factor I | Very often (80–99%) | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Very often (80–99%) | In 1 condition |
| RP1L1RP1 like 1 | Very often (80–99%) | In 1 condition |
| TIMP3TIMP metallopeptidase inhibitor 3 | Very often (80–99%) | In 2 conditions |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Often (30–79%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Sometimes (5–29%) | In 1 condition |
| CCNQcyclin Q | Sometimes (5–29%) | In 1 condition |
| MYO5Amyosin VA | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| BEST1bestrophin 1 | Not recorded | In 1 condition |
| CHST6carbohydrate sulfotransferase 6 | Not recorded | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Not recorded | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Not recorded | In 2 conditions |
| PROM1prominin 1 | Not recorded | In 1 condition |
| PRPH2peripherin 2 | Not recorded | In 2 conditions |
| SYCE1synaptonemal complex central element protein 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.
Narrower traits
Broader traits
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks