©The Author(s) 2015.
World J Med Genet. May 27, 2015; 5(2): 14-22
Published online May 27, 2015. doi: 10.5496/wjmg.v5.i2.14
Published online May 27, 2015. doi: 10.5496/wjmg.v5.i2.14
Table 3 List of prioritized candidates according to the clinical phenotype or X-linked pattern of inheritance
| Main candidate gene | Disease |
| CNGB3, CNGA3 | Achromatopsia |
| RHO | adRP |
| VMD2 | Best disease |
| CYP4V2 | Bietti crystalline dystrophy |
| RDS/PRPH2 | Central areolar choroidal dystrophy |
| CHM | Choroideremia |
| LRPO5, FZD4, TSAPN12 | Familiar exudative vitreoretinopathy |
| RDH5, RLBP1 | Fundus albipunctatus |
| NR2E3 | Goldman-Favre-Enhanced S-cone syndrome |
| CEP290 | LCA |
| MFRP | Nanophthalmia |
| NDP | Norrie disease |
| SAG | Oguchi disease |
| RS1 | Retinoschisis |
| RECQL4 | Rothmund-Thompson syndrome |
| ABCA4, RDS/PRPH2 | Stargardt disease |
| USH2A | Usher syndrome |
| VCN | Wagner syndrome |
| RPGR | XLCD, XLCRD |
| RPGR, RP2 | XLRP, RP simplex |
- Citation: Marfany G, Gonzàlez-Duarte R. Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions. World J Med Genet 2015; 5(2): 14-22
- URL: https://www.wjgnet.com/2220-3184/full/v5/i2/14.htm
- DOI: https://dx.doi.org/10.5496/wjmg.v5.i2.14