Investigating the CRB1 gene

Investigating the CRB1 gene and immune system in patients with retinal dystrophy

Jonas Kuiper, Prof. dr. Dr Saskia Imhof, Prof. dr. Dr. Joke de Boer, Prof. dr. Dr Mies van Genderen, Prof. dr. Dr Tim Radstake | July 30, 2020 |




Research

Retinal death can be caused by several genes. When there is an error in the CRB1 gene, some people become severely visually impaired. Others with the same gene mutation experience fewer vision problems. The reason for this may be due to the immune system. This is what we investigate in this study.


The retina is the innermost part (the inner lining) of the eye. This consists of many different cells, whereby the rods and the cones (the photoreceptors) ensure the reception and transmission of a light signal. The rods are specialized in seeing contrast (dark and light) and the cones in seeing colors. Retinal dystrophy is an umbrella term that means nothing less than a 'disorder of the retina'. A common form of retinal dystrophy is retinitis pigmentosa , a condition that prevents the rods from functioning properly. The rods, but also the cones, eventually break down and cause a chain reaction. This causes visibility to deteriorate over the years.


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Interested in participating?

UMC Utrecht asks that you contact: drs. Lude Moekotte, physician-researcher E-mail: l.moekotte@umcutrecht.nl Telephone number: +31 088 75 719 33 It is not certain that you can participate after registration. The study doctor first assesses, based on the medical data, whether you meet all the criteria for participation.