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.