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
- 1. Heath Jeffery RC, Mukhtar SA, McAllister IL, et al. Inherited retinal diseases are the most common cause of blindness in the working‐age population in Australia. Ophthalmic Genet 2021; 42: 431‐439.
- 2. Hanany M, Rivolta C, Sharon D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc Natl Acad Sci U S A 2020; 117: 2710‐2716.
- 3. Heath Jeffery RC, Lo J, Thompson JA, et al. Driving with retinitis pigmentosa. Ophthalmic Genet 2023; https://doi.org/10.1080/13816810.2023.2196338 [online ahead of print].
- 4. Bhattacharya SS, Wright AF, Clayton JF, et al. Close genetic linkage between X‐linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 1984; 309: 253‐255.
- 5. Roshandel D, Thompson JA, Heath Jeffery RC, et al. Multimodal retinal imaging and microperimetry reveal a novel phenotype and potential trial end points in CRB1‐associated retinopathies. Transl Vis Sci Technol 2021; 10: 38.
- 6. Britten‐Jones AC, Gocuk SA, Goh KL, et al. The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta‐analysis. Am J Ophthalmol 2023; 249: 57‐73.
- 7. Britten‐Jones AC, O'Hare F, Edwards TL, Ayton LN; VENTURE Study Consortium. Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): rationale, methodology and initial participant characteristics. Clin Exp Ophthalmol 2022; 50: 768‐780.
- 8. Schofield D, Lee E, Parmar J, et al. Economic evaluation of population‐based, expanded reproductive carrier screening for genetic diseases in Australia. Genet Med 2023; 25: 100813.
- 9. Hu ML, Edwards TL, O'Hare F, et al. Gene therapy for inherited retinal diseases: progress and possibilities. Clin Exp Optom 2021; 104: 444‐454.
- 10. Therapeutic Goods Administration. Luxturna [Australian prescription medicine decision summaries]. 13 Aug 2020. https://www.tga.gov.au/resources/auspmd/luxturna (viewed June 2022).
- 11. Hu ML, Edwards TL, O'Hare F, et al. Gene therapy for inherited retinal diseases: progress and possibilities. Clin Exp Optom 2021; 104: 444‐454.
- 12. Schofield D, Kraindler J, Tan O, et al. The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study. Med J Aust 2023; 219: 70‐76.
Publication of your online response is subject to the Medical Journal of Australia's editorial discretion. You will be notified by email within five working days should your response be accepted.