Inherited retinal disease in global Indigenous populations: A scoping review

Résumé fourni par la source

Accurate diagnosis is essential for accessing emerging gene-targeted treatments for inherited retinal diseases (IRDs), but many minoritised communities face additional barriers to diagnosis. This scoping review synthesised clinical studies on the prevalence and diagnosis of IRDs among Indigenous Peoples worldwide. Medline, Embase, Global Health, Informit and CINAHL were searched on December 4, 2023. We included articles reporting Indigenous Peoples with IRDs from all global regions published between 1974 and 2023; 73 studies (581 cases) of IRDs in Indigenous Peoples from 24 countries were included, mostly reporting participants indigenous to the Middle East (34 %), Oceania (27 %) and North America (23 %). Studies of specific IRD cases showed geographical or cultural group associations, such as rod-cone dystrophy among the Diné (Navajo Nation) or Bardet-Biedl syndrome in Bedouin populations of the Middle East. With dedicated programs, population-specific IRD gene variants in the Middle Eastern Bedouin populations, New Zealand Māori and other Pacific peoples are the most well-characterised, and this has enabled improved diagnostic approaches. There is limited knowledge of the relative prevalence and support needs for IRDs among most other global Indigenous groups. Engagement, co-designed approaches and collective efforts, including raising awareness, may address challenges limiting equitable access to IRD diagnosis for Indigenous Peoples, facilitating access to emerging treatments.

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