Functional Retinal Imaging of Inherited Retinal Diseases

Retinal dystrophies represent a group of inherited ophthalmic diseases, which
are characterized by progressive dysfunction or loss of retinal photoreceptor
cells, often accompanied by fundus abnormalities. Retinal dystrophies represent
the most important cause of juvenile blindness in the Western world for which
no treatment is currently available. Although gene-therapy treatments for
retinal dystrophies are currently being developed, clinical characterization of
these diseases is largely based on assessments with a strong subjective
component, poor sensitivity, and poor resolution. Therefore there is a growing
demand to improve current examination techniques, in order to find out which
patients may be amenable for such treatments. Recent advances in retinal
imaging techniques have increased the abilities of clinical characterization,
including the accurate monitoring of disease progression and detection of
remaining functional retina in retinal dystrophies. While currently available
devices only allow for morphological retinal imaging, imaging of photoreceptor
function has been shown to be feasible in several studies. This innovative
functional retinal imaging provides the opportunity to observe retinal function
on a micrometer scale, which will be of great significance for patient
selection for, and documentation of future gene-therapeutic studies.

The goal of this study is the development of a clinically verified functional
imaging technique of the retina.

Prospective case-control study.

Participants do not benefit at the time of the study. All procedures are
non-invasive and there are no significant risks known about the examination
techniques applied in our study. The additional time spent for study
investigations will be about one hour.