Determining optimal vision care for emotionally distressed patients with inherited retinal diseases

Abstract The distinct phenotypes making up inherited retinal degenerations (IRDs) affect all forms of functional vision, and therefore, provide an illustrative disease model for low vision and blindness. Usual care for individuals with IRDs consists of low vision rehabilitation (LVR). Patients experience variable effectiveness with LVR that is often accompanied by elevations in depression and anxiety, which can complicate the delivery, impact, and efficacy of LVR. There remains a critical need to develop an individualized treatment approach for patients with IRDs addressing vision related anxiety. The Principal Investigator has created IRD-specific, psychometrically validated, patient reported outcome (PRO) measures that capture and quantify specific disabilities of patients in categories of physiologically distinct forms of visual dysfunction and distress that are seen in variable phenotypic expressions of IRDs. Our goal in this grant application is to quantify the difficulties, limitations, and distress experienced by the heterogeneous expressions of IRDs and intervene with LVR and psychotherapy. Building on our earlier work, we propose to assess the impact of LVR coupled with a well validated cognitive behavior therapy, called Emotion Regulation Therapy (ERT), to enhance functioning and resolve elevations in depression and anxiety. The proposed research relates closely with the National Eye Institute’s Vision for the Future, where standards of care must come to emphasize the individual quality of life—with a particular focus on the patient perspective and encompassing blindness rehabilitation and brain plasticity, assistive devices and independent living, while also addressing depression in patients coping with vision loss. We propose to quantify levels of vision-related difficulties, limitations, and distress detected by both the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-related Anxiety Questionnaire (MVAQ) in a cross-sectional study of 600 patients with varying phenotypic manifestations of IRDs. We will quantify longitudinal change in vision-related and emotional difficulties, limitations, and impairment by intervening with LVR and ERT applied by targeting the quantified functional deficits detected by MRDQ and MVAQ in patients with varying phenotypic manifestations of IRDs, by conducting a three-arm trial in 180 IRD patients comparing LVR in settings of low and high vision-related anxiety, and ERT given to individuals with high vision-related anxiety to determine the comparative efficacy signal from IRD validated PROs. We see the current work as a crucial first step to set the stage for a multicenter trial in provision of LVR and ERT for vision-related distress, and thereby improving the quality of life of patients with progressive visual impairment due to genetic etiology. This program of research may also offer a blueprint for tailoring and optimizing care for visually impaired patients well beyond IRDs.