Condition: Adult-Onset Vitelliform Macular Dystrophy
rs61748432 in
PRPH2 gene and
Adult-Onset Vitelliform Macular Dystrophy
PMID 17653047 2007 High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
PMID 9338584 1997 Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
PMID 20213611 2011 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
PMID 15370544 2004 A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.
PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).