Table 1
Molecular genetic loci and genes associated with macular dystophies
| Phenotype | Inheritance | Genomic locus | Gene | Mutation in AMD |
| Stargardt's disease | AR | 1p21-p22 | ABC4R | No |
| Dominant drusen | AD | 2p16 | EFEMP1 | No |
| Pattern dystrophy | AD | 6p21.2-cen (+other loci?) | Peripherin/RDS | No |
| “Macular” dystrophy | AD | 6p21.2-cen (+ other loci?) | Peripherin/RDS | No |
| Adult vitelliform macular dystrophy | AD | 6p21.2-cen (+ other loci?) | Peripherin/RDS | No |
| Stargardt-like fundus dystrophy | AD | 6q11-q15, 13q34 | — | — |
| Best's disease | AD | 11q13 | Bestrophin | No |
| Sorsby's fundus dystrophy | AD | 22q12.1-q13.2 | TIMP3 | No |
| X linked retinoschisis | XL | Xp22.2 | XLRS1 | — |
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AR = autosomal recessive, AD = autosomal dominant, XL = X linked.
