Chromosomal loci and causative genes in inherited macular dystrophies
| Macular dystrophy; OMIM number | Mode of inheritance | Chromosome locus | Mutated gene | References |
|---|---|---|---|---|
| *Unpublished data, see text. | ||||
| Stargardt disease/fundus flavimaculatus; 248200 | Autosomal recessive | 1p21-p22 (STGD1) | ABCA4 | 13, 14 |
| Stargardt-like macular dystrophy; 600110 | Autosomal dominant | 6q14 (STGD3) | ELOVL4 | 42, 44 |
| Stargardt-like macular dystrophy; 603786 | Autosomal dominant | 4p (STGD4) | PROML1*; | 43 |
| Autosomal dominant “bull’s-eye” macular dystrophy | Autosomal dominant | 4p (MCDR2) | PROML1*; | 47 |
| Best macular dystrophy; 153700 | Autosomal dominant | 11q13 | VMD2 | 51– 53 |
| Adult vitelliform dystrophy; 179605 | Autosomal dominant | 6p21.2-cen | Peripherin/RDS | 62 |
| Pattern dystrophy; 169150 | Autosomal dominant | 6p21.2-cen | Peripherin/RDS | 64– 66 |
| Doyne honeycomb retinal dystrophy; 126600 | Autosomal dominant | 2p16 | EFEMP1 | 74 |
| North Carolina macular dystrophy; 136550 | Autosomal dominant | 6q14-q16.2 (MCDR1) | Not identified | 81– 83 |
| Autosomal dominant macular dystrophy resembling MCDR1 | Autosomal dominant | 5p15.33-p13.1 (MCDR3) | Not identified | 84 |
| North Carolina-like macular dystrophy associated with deafness | Autosomal dominant | 14p (MCDR4) | Not identified | 85 |
| Progressive bifocal chorioretinal atrophy; 600790 | Autosomal dominant | 6q14-q16.2 | Not identified | 88 |
| Sorsby’s fundus dystrophy; 136900 | Autosomal dominant | 22q12.1-q13.2 | TIMP3 | 90– 92 |
| Central areolar choroidal dystrophy; 215500 | Autosomal dominant | 6p21.2-cen | Peripherin/RDS | 100 |
| 17p13 | Not identified | 101– 102 | ||
| Dominant cystoid macular dystrophy; 153880 | Autosomal dominant | 7p15-p21 | Not identified | 105 |
| Juvenile retinoschisis; 312700 | X linked | Xp22.2 | XLRS1 | 110 |