Inherited retinal disease in global Indigenous populations: A scoping review.

This research looked at inherited eye diseases (called IRDs - conditions that cause vision loss and blindness that run in families) among Indigenous communities around the world. The researchers reviewed 73 studies covering 581 patients from 24 countries to understand how common these conditions are and what challenges exist in getting proper diagnoses. The study found that certain eye diseases appear more frequently in specific Indigenous groups - for example, Bardet-Biedl Syndrome is more common in Bedouin populations in the Middle East, and a condition called rod-cone dystrophy occurs more often in the Diné (Navajo) community. Some Indigenous groups, particularly Bedouin populations, New Zealand Māori, and other Pacific peoples, have been studied more thoroughly, which has helped doctors better identify the specific genetic changes that cause eye diseases in these communities. This research matters because accurate diagnosis is becoming increasingly important - new gene-targeted treatments for inherited eye diseases are being developed, but patients need a proper genetic diagnosis to access them. However, many Indigenous communities face barriers to getting diagnosed. The researchers suggest that working directly with Indigenous communities, raising awareness, and developing culturally appropriate approaches could help ensure fairer access to diagnosis and future treatments for these sight-threatening conditions.

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.