Exome sequencing in families with chronic central serous chorioretinopathy.
Rosa L SchellevisElon H C Van DijkMyrte B BreukinkJan E E KeunenGijs W E SantenCarel B HoyngEiko K de JongCamiel J F BoonAnneke I den HollanderPublished in: Molecular genetics & genomic medicine (2019)
We identified potential candidate genes for familial CSC and managed to exclude Mendelian inheritance of variants in one or a limited number of genes. Instead, familial CSC may be a heterogeneous Mendelian disease caused by variants in many different genes, or alternatively CSC may represent a complex disease to which both environmental factors and genetics contribute.