Carter Coleman - Department of Ophthalmology
Stargardt macular dystrophy is an autosomal recessive inherited disease of the eye, specifically involving the macula, which is the part of the retina responsible for providing central and detailed vision. It is the most common inherited type of macular dystrophy and is caused by different sequence variants in the large ABCA4 gene, a gene responsible for encoding a protein specific to the retina. In individuals with the disease, symptoms typically develop at a younger age, with presentation occurring between childhood and young adulthood. Patients with this disease present with increased fatty deposits in the layers of their retina, which can be seen by an ophthalmologist during an eye exam.
Currently, there are no known cures for the disease, however, there are several different options for treatment that are under investigation. One pharmacological approach aims to reduce the buildup of toxic products that lead to the worsening of Stargardts. Another approach targets the toxic products themselves. Many of these drugs are under clinical trial and are currently being investigated.
Other types of therapy include gene replacement therapy, in which non-mutated genes are delivered to an individual with mutated genes in order to correct these errors. The current gene replacement therapy utilizes Adeno-associated virus vectors to deliver genes. However, this approach is not possible with Stargardts because the size of the ABCA4 gene is too large for these vectors. Future investigations using this method are exploring other virus vectors or even non-viral vectors, like lipid nanoparticles, which could be safer and more effective at delivering large segments of gene material as is needed for Stargardts. With pharmacological and genetic treatment methods being investigated and improved, the future of improved Stargardt treatment holds distinct promise.
References:
Fujinami K, Waheed N, Laich Y, et al. Stargardt macular dystrophy and therapeutic approaches. Br J Ophthalmol. 2024;108(4):495-505. Published 2024 Mar 20. doi:10.1136/bjo-2022-323071
Edited By: Firas Batrash, Editor-in-Chief
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