Thesis defense Roos Schellevis (Donders series 373)

1 March 2019

Promotor: prof. dr. A. den Hollander
Co-promotor: dr. E. de Jong

The Genetics of Central Serous Chorioretinopathy

Central serous chorioretinopathy (CSC) is an eye disease characterized by fluid accumulation between the layers of the retina leading to loss of vision. The treatment options for CSC are limited because the cause of the disorder is currently unknown.
During her research Roos Schellevis investigated genetic variations in patients with CSC to find the cause of the disease. First she looked at changes in genes that are thought to be related to CSC. Next, she compared the complete DNA of patients suffering from CSC with healthy volunteers to identify new genetic variations causing the disease. Schellevis also looked at families in which CSC occurs to find changes in the DNA that might underlie familial CSC. She discovered various mechanisms that might explain CSC, such as variations in the complement system (part of the immune system) and hormone regulation. The role of these specific genetic variations in the emergence of CSC needs to be further explored in order to accelerate the development of new therapies that interfere with these mechanisms.