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Inherited retinal diseases (IRDs) comprise a group of heterogeneous monogenic disorders characterised by retinal dysfunction and degeneration, often leading to progressive vision loss and blindness. Genomic variant prevalence data suggest that IRDs affect about one in 1000 people, and IRDs are now the leading cause of blindness in working age adults. As early onset of disease often causes significant vision deficits during childhood and throughout life, their impact, both on those directly affected and on their families, is considerable.

The limited treatment options in Australia have gradually improved since voretigene neparvovec (Luxturna, Novartis) was approved for people with RPE65 retinopathy in 2020, the first publicly subsidised in vivo gene therapy in Australia; the first patient was treated in the same year. The Medical Services Advisory Committee (MSAC) acknowledged the clinical need for an effective treatment, but also noted some limitations, including in the cost–effectiveness analysis for the application (which did not take benefits for carers into account), and required a full review within three years of its approval.

This MJA research shares more. 

Learning Outcomes

1. Explain key components of the research
2. List main findings
3. Recommend steps to provide better support for people with IRDs.

Details

Author: Deborah Schofield, Joshua Kraindler, Owen Tan, Rupendra N Shrestha, Sarah West, Natalie Hart, Liny Tan, Alan Ma, John R Grigg and Robyn V Jamieson

Article Type: Research