Table 1 of van Lith-Verhoeven, Mol Vis 2003; 9:138-143.

Table 1. Autosomal dominant macular, RPE and choroidal dystrophy loci

Autosomal dominant macular, RPE and choroidal dystrophy loci, listed by chromosomal location and the microsatellite markers used for linkage analysis.

  location      Locus     Gene                   Phenotype                              Markers
-------------   ------   ------   ------------------------------------------   -------------------------
1q25-q31        ARMD1    -        Age-related macular degeneration             D1S238, F13B, D1S2683
2p16-p21        DHRD     EFEMP1   Dominant drusen/Doyne honeycomb retinal      D2S1771, D2S123
4p              STGD4    -        Stargardt disease                            D4S2957, D4S431, D4S394,
                                                                                 D4S3048, D4S419, D4S230
6p21.1          COD3     GUCA1A   Cone dystrophy                               D6S1680, D6S1582
6p21.2-cen      -        RDS      Adult vitelliform macular dystrophy,         D6S1680, D6S1582, D6S1651
                                    Central areolar choroidal dystrophy,
                                    Cone-rod dystrophy, Pattern dystrophy
6q              CORD7    -        Cone-rod dystrophy                           D6S1681
6q14            STGD3    ELOVL4   Stargardt disease                            D6S1681, D6S1609, D6S1613
6q14-q16.2      MCDR1,   -        North Carolina macular dystrophy,            D6S1613, D6S300, D6S302
                PBCRA               Progressive bifocal chorioretinal
6q25-q26        RCD1     -        Cone dystrophy                               D6S290, D6S305
7p21-p15        CYMD     -        Cystoid macula dystrophy                     D7S2493, D7S673
11p15           AA       -        Atrophia areata/chorioretinal degeneration   D11S1318, D11S4149
11q13           VMD2     VMD2     Best disease                                 D11S1883, PYGM, D11S987
17p13           CACD     -        Central areolar choroidal dystrophy          D17S1528, D17S1876
17p13.1         CORD6    GUCY2D   Cone-rod dystrophy                           D17S1876, D17S786
17p13.1         -        AIPL1    Cone-rod dystrophy                           D17S1876, D17S786
17p13-p12       CORD5    -        Cone-rod dystrophy                           D17S786, D17S945
17q11.2         -        UNC119   Cone-rod dystrophy                           D17S798, D17S250
19q13.3         CORD2    CRX      Cone-rod dystrophy                           D19S867, D19S572
22q12.1-q13.2   SFD      TIMP3    Sorsby's fundus dystrophy                    D22S281, D22S421

van Lith-Verhoeven, Mol Vis 2003; 9:138-143 <>
©2003 Molecular Vision <>
ISSN 1090-0535