Health economic aspects of inherited retinal diseases: looking for cost‐effective treatments

Until recently, the management of people with inherited retinal diseases (IRDs) was largely limited to referral for vision aids and registration as being legally blind. This situation is now rapidly changing in the disciplines of ophthalmology and clinical genetics, largely due to the emergence of gene‐based therapies that halt disease progression. IRDs comprise a group of diverse disorders that includes retinitis pigmentosa, Stargardt disease, choroideraemia, Best disease, congenital stationary night blindness, achromatopsia, Leber congenital amaurosis, and similar conditions. Four decades of research have led to the identification of pathogenic variants in more than 300 IRD‐causing genes. While the individual conditions and gene variants are rare, together they affect up to one in 1000 people in Australia, or as many as 25 000 people; IRDs are the leading cause of blindness in working age adults.1,2 The loss of central or peripheral vision, profound nyctalopia, and debilitating photophobia have a significant impact on daily activities and consequently the independence of people with these conditions. For example, IRDs can affect navigation, facial recognition, and driving: all significant for quality of life.3