Fast Five Quiz: Inherited Retinal Diseases

Raj K. Maturi, MD


March 31, 2023

Various low-vision aids are available for people with IRD. Ocular devices include simple magnifying lenses; microscopes (high plus reading glasses); telescopes (hand-held, clip-on, or spectacle-mounted); reverse telescopes (eg, field expansion prisms); telescopic contact lenses; telescopic intraocular lenses; and electro-optical devices, such as closed-circuit televisions. Simple devices that meet patients' needs are well accepted, and nearly all patients with IRDs can benefit from them, despite poor baseline acuity.

Genetic mutations in the RPE5 gene have been identified in two IRDs: Leber congenital amaurosis and retinitis pigmentosa. In 2017 and 2018, the US Food and Drug Administration (FDA) and European Union, respectively, approved the first gene therapy for the treatment of patients with confirmed RPE65 gene mutation–associated retinal dystrophy: voretigene neparvovec-rzyl. Studies have shown it results in improvement in a variety of visual function markers, including ERGs, pupillary light responses, and object avoidance behavior. Moreover, clinical trials suggest that treatment may improve night vision and halt the progression of vision loss.

At present, RNA-based therapies for IRDs have not yet been approved. However, three investigational RNA-based therapies for IRDs are in phase 1/2 and 2/3 clinical trials: sepofarsen, ultevursen, and QR-1123. Early data from clinical trials of these agents has been promising.

Early data from continuing clinical trials have shown the safety and efficacy of stem cell–based regenerative therapies for retinal dystrophies. However, more studies are needed, and these therapies have not yet been incorporated into clinical practice.

Learn more about the management of IRDs.


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