OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

Pattern dystrophy (PD) of the retinal pigment epithelium is a slowly progressive genetically heterogeneous autosomal dominant disorder. As the name suggests, the disease manifests as changes in the retina that display a certain ‘pattern’. We performed genetic analyses in two families with PD; different approaches that included linkage analysis and whole exome sequencing were used. We identified a novel missense variant (E79K) in OTX2 gene to underlie PD in both families. OTX2 has been previously associated with developmental eye and pituitary anomalies in humans. Our work is the first to associate OTX2 to cause PD and shows that mutations OTX2 can also lead to progressive retinal diseases. (By Dr. Ajoy Vincent, http://jmg.bmj.com/content/early/2014/10/07/jmedgenet-2014-102620 )