Date of Award

8-11-2024

Document Type

Open Access Thesis

Degree Name

MS in Physician Assistant Studies (PA)

Department

Physician Assistant Studies

First Advisor

Vanessa Bester

Abstract

Background: This review is aimed at furthering understanding of Stargardt’s, including disease pathophysiology, treatment methods, and the future of vision restoration.

Purpose: Stargardt’s (STGD) was initially discovered in 1909, but it was not fully understood until 1997. It is the most common form of inherited macular degeneration. There are few resources for patients and providers regarding treatment options and lifestyle recommendations.

Methods: A comprehensive literature review was conducted using NIH, UpToDate, and Google Scholar. Specific terms are further detailed in the review. Inclusion criteria were studies focused on STGD patients. Exclusion criteria for were those that only evaluated patients without ABCA4 gene mutations. Additionally, a confidential and anonymous survey with IRB approval was conducted to gauge patient understanding of STGD and potential areas for clinicians to improve upon. Once IRB approval was obtained, the survey was posted to a Facebook group dedicated to those with Stargardt’s. Informed consent was obtained from all participants.

Conclusions: There is no cure for STGD. Current treatments have shown efficacy in slowing disease progression but not correcting RmP deficiency. Genetic therapy is still pending trial completion in 2033. It shows promise to restore ABCA4 gene function in retinal cells. Additionally, survey data suggests that there is room for clinicians to improve in terms of patient education and recommendations for life-style changes.

Identifier

SC 11.PAS.2024.Myers.D

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