Isolated macular dystrophy: genes and variants
Isolated macular dystrophy is linked to 3 analyzed proteins (ABCA4, BEST1 and COL4A5). 5 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Isolated macular dystrophy
ABCA4: Retinal-specific phospholipid-transporting ATPase ABCA4
It flips retinal-derived lipid adducts across photoreceptor disc membranes so they can be cleared during the visual cycle. Biallelic loss-of-function variants cause Stargardt disease and can also produce cone-rod dystrophy or retinitis pigmentosa.
3 disease-causing and 2 uncertain variants in ABCA4 are linked to Isolated macular dystrophy.
BEST1: Bestrophin-1
It helps regulate ion transport and fluid homeostasis across the retinal pigment epithelium. Pathogenic variants cause bestrophinopathies including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, and some retinitis pigmentosa phenotypes.
1 disease-causing and 0 uncertain variants in BEST1 are linked to Isolated macular dystrophy.
COL4A5: Collagen alpha-5(IV) chain
It is essential for the alpha3-alpha4-alpha5 type IV collagen network that gives glomerular and cochlear basement membranes their mature mechanical properties. Pathogenic variants cause X-linked Alport syndrome, with progressive kidney disease, hearing loss, and characteristic ocular findings.
1 disease-causing and 0 uncertain variants in COL4A5 are linked to Isolated macular dystrophy.
Weakly linked (only a few uncertain records): PRPH2.
Known disease-causing variants in Isolated macular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL4A5 G772V | 772 | Triple-helical region | Disease-causing (★★) |
| ABCA4 S765T | 765 | Transmembrane | Disease-causing (★★) |
| BEST1 R13G | 13 | Cytoplasmic | Disease-causing (★★) |
| ABCA4 P638S | 638 | Extracellular | Disease-causing (★) |
| ABCA4 V860A | 860 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Severe early-childhood-onset retinal dystrophy is also caused by ABCA4 variants; they fall mostly in different places as the Isolated macular dystrophy variants (148 disease-causing).
- ABCA4-related retinopathy is also caused by ABCA4 variants; they fall mostly in different places as the Isolated macular dystrophy variants (60 disease-causing).
- Retinitis pigmentosa is also caused by ABCA4 variants; they fall mostly in different places as the Isolated macular dystrophy variants (58 disease-causing).
- Stargardt disease is also caused by ABCA4 variants; they fall mostly in different places as the Isolated macular dystrophy variants (41 disease-causing).
- Age related macular degeneration 9 is also caused by ABCA4 variants; they fall mostly in different places as the Isolated macular dystrophy variants (41 disease-causing).
- Vitelliform macular dystrophy 2 is also caused by BEST1 variants; they fall mostly in different places as the Isolated macular dystrophy variants (39 disease-causing).
- Autosomal recessive bestrophinopathy is also caused by BEST1 variants; they fall mostly in different places as the Isolated macular dystrophy variants (22 disease-causing).
- Autosomal dominant vitreoretinochoroidopathy is also caused by BEST1 variants; they fall mostly in different places as the Isolated macular dystrophy variants (9 disease-causing).
- Retinal disorder is also caused by BEST1 variants; they fall mostly in different places as the Isolated macular dystrophy variants (4 disease-causing).
- BEST1-related dominant retinopathy is also caused by BEST1 variants; they fall mostly in different places as the Isolated macular dystrophy variants (3 disease-causing).
- X-linked Alport syndrome is also caused by COL4A5 variants; they fall mostly in different places as the Isolated macular dystrophy variants (341 disease-causing).
- Alport syndrome is also caused by COL4A5 variants; they fall mostly in different places as the Isolated macular dystrophy variants (14 disease-causing).
Diseases related to Isolated macular dystrophy
- Retinitis pigmentosa, also linked to ABCA4 and BEST1
- Retinal disorder, also linked to ABCA4 and BEST1
- X-linked Alport syndrome, also linked to COL4A5
- Alport syndrome, also linked to COL4A5
- Leber congenital amaurosis, also linked to ABCA4
- Severe early-childhood-onset retinal dystrophy, also linked to ABCA4
- Autosomal dominant Alport syndrome, also linked to COL4A5
- Rare genetic deafness, also linked to COL4A5
- ABCA4-related retinopathy, also linked to ABCA4
- Stargardt disease, also linked to ABCA4
- Cone-rod dystrophy, also linked to ABCA4
- Age related macular degeneration 9, also linked to ABCA4
Frequently asked questions
Which genes are linked to Isolated macular dystrophy?
In CATVariant, Isolated macular dystrophy is linked to 3 analyzed proteins: ABCA4 (Retinal-specific phospholipid-transporting ATPase ABCA4), BEST1 (Bestrophin-1) and COL4A5 (Collagen alpha-5(IV) chain).
How many genetic variants are linked to Isolated macular dystrophy?
8 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Isolated macular dystrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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