Exome sequencing in families with chronic central serous chorioretinopathy

ConclusionWe 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.

Source: Molecular Genetics & Genomic Medicine - February 6, 2019 Category: Genetics & Stem Cells Authors: Rosa L. Schellevis, Elon H. C. van Dijk, Myrte B. Breukink, Jan E. E. Keunen, Gijs W. E. Santen, Carel B. Hoyng, Eiko K. de Jong, Camiel J. F. Boon, Anneke I. den Hollander Tags: ORIGINAL ARTICLE Source Type: research