Structure-Function Correlation in ABCA4-Related Retinopathy

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ABCA4-related retinopathy is among the most common causes of legal blindness in the age between 15 and 65 years. Up to now, an approved therapy is still pending. In the view of upcoming therapeutic trials, validated biomarkers are required. Using novel imaging techniques, the submitted project targets the functional relevance of retinal alterations in order to define valid biomarkers. Two subprojects are included. The first subproject deals with the innovative diagnostic tool of quantitative autofluorescence (qAF) that was most recently established inter alia by the applicant’s own studies. qAF enables the investigator to objectively image earliest retinal alterations of ABCA4-related retinopathy in-vivo. Using fundus-controlled perimetry and electrophysiology, the functional relevance of deviations from the normative database will be investigated. In the second subproject, the applicant will use the spectral domain optical coherence tomography (OCT). The functional impact of local alterations in single layers visualized by OCT will be investigated using fundus-controlled perimetry and electroretinogram. The functional relevance of morphologic changes enables the investigator to define biomarkers and potential therapeutic windows. All technical devices required for the submitted project are available. More than adequate possible subjects already have been genotyped as well as phenotyped and expressed interest in participation in the project. Comprehensive preliminary work substantiates the available expertise. The requested funding of the German Research Foundation (50% exemption from clinical duties for 12 months) is an essential requirement in order to realize the submitted project. The high significance of the project necessitates an immediate launch.