1 | AVMD, PRPH2 |
Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy. | |
Grunin M, Tiosano L, Jaouni T, Averbukh E, Sharon D, Chowers I. | |
Ophthalmic Genet 37(3):285-9. doi: 10.3109/13816810.2015.1059456. 2016 | |
2 | AVMD, PRPH2 |
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2. | |
Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M. | |
Br J Ophthalmol 96(5):719-22. doi: 10.1136/bjophthalmol-2011-300964. 2012 | |
3 | AVMD, PRPH2 |
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. | |
Kramer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schutt F, Holz FG, Weber BH. | |
Eur J Hum Genet 8(4):286-92. 2000 | |
4 | PRPH2, AVMD |
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. | |
Felbor U, Schilling H, Weber BH. | |
Hum Mutat 10(4):301-9. 1997 | |
5 | RP14, PRPH2, AVMD |
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. | |
Wells J, et al. | |
Nat Genet 3 : 213-217. 1993 | |