1. Stargardt Disease
- Author
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Kevin Delijani, Dylan Sadowsky, Kahlo Baniadam, Daniel Popovsky, Ronak Sutariya, and William Davis
- Abstract
Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common. Each variant may have distinct clinical features, however, patients generally experience bilateral central vision loss and poor visual acuity ranging from 20/70 to 20/200. Diagnosis is often made through clinical presentation and may be assisted by fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), fundus autofluorescence (FAF) or electrophysiological assessment. Currently, there are multiple classification systems of Stargardt disease that include Fishman STGD classification system, groupings due to electroretinography (ERG) findings, and types based on FAF imaging. Though there are currently no clinically proven treatments for Stargardt disease, physicians often recommend patients avoid direct sunlight, smoking cigarettes, and excessive intake of vitamin A. Potential treatments currently under investigation include strategies using gene replacement therapy, stem cell therapy, and pharmacologic agents. The purpose of this paper is to review the current knowledge of the genetics, classifications, and treatments of Stargardt disease, while underscoring the need for further research in potential treatment routes.
- Published
- 2022