Die OphthalmologieOct 8, 2026

Gene-based treatments for Stargardt disease

CRISPR Gene Editing Weekly Brief ↗PubMed ↗DOI ↗

Updated Oct 10, 2026

Abstract

Stargardt disease is the most frequent autosomal recessive macular degeneration in childhood and adolescence, caused by variants in the ABCA4 gene.

No approved disease-modifying treatment currently exists for Stargardt disease.
Gene supplementation therapies utilize lentiviral or dual AAV vectors to provide healthy copies of the ABCA4 gene.
Gene editing techniques, including RNA exon editing and base editing, can directly correct mutations in the ABCA4 gene.
Antisense oligonucleotides can address splicing defects through less invasive intravitreal injection, though they require repeated administration.
Indirect therapies target visual cycle modulation or neuroprotective signaling pathways, applicable regardless of genetic variants.
Optogenetics represents a disease-agnostic approach to restore vision in advanced degeneration by utilizing remaining inner retinal layers.

Simplified

Stargardt disease is caused by biallelic variants in the ABCA4 gene and is the most frequent autosomal recessive macular degeneration in childhood and adolescence. No approved disease-modifying treatment has yet been approved. The size of the ABCA4 gene represents a challenge for conventional gene therapy based on adeno-associated viruses (AAV) and was the stimulus for the development of innovative strategies. Gene supplementation therapies use lentiviral or dual AAV vectors to introduce complete copies of the healthy ABCA4 gene into the target cells, whereas gene editing procedures, such as RNA exon editing or base editing, enable direct correction of the mutations causing the diseases. Intravitreal injection of antisense oligonucleotides selectively addresses splicing defects and provides a less invasive intravitreal approach but requires repeated applications. Indirect therapies modulate the visual cycle or neuroprotective signalling pathways and can be applied independent of variants. Finally, disease-agnostic approaches, such as optogenetics, enable restoration of vision in cases of advanced degeneration by the use of preserved inner retinal layers. The diversity of these approaches takes account of the broad spectrum of diseases that ranges from a disease limited to the macula to a generalized rod-cone dystrophy and perspectively opens up individualized treatment strategies depending on the genotype and phenotype.

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Gene-based treatments for Stargardt disease

Abstract

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