Inherited retinal disease in global Indigenous populations: A scoping review

Area of Science:

• Ophthalmology
• Genetics
• Public Health

Background:

• Accurate diagnosis of inherited retinal diseases (IRDs) is vital for accessing gene-targeted treatments.
• Minority communities, including Indigenous Peoples, face significant barriers to IRD diagnosis.

Purpose of the Study:

• To synthesize global clinical studies on the prevalence and diagnosis of IRDs among Indigenous Peoples.
• To identify knowledge gaps and inform strategies for equitable access to care.

Main Methods:

• A scoping review of studies published between 1974 and 2023.
• Searched Medline, Embase, Global Health, Informit, and CINAHL databases.
• Included articles reporting on Indigenous Peoples with IRDs from all global regions.

Main Results:

• 73 studies (581 cases) from 24 countries were included, with most participants from the Middle East, Oceania, and North America.
• Specific IRD cases showed geographical/cultural associations (e.g., rod-cone dystrophy in Diné, Bardet-Biedl syndrome in Middle Eastern Bedouins).
• IRD gene variants are well-characterized in some populations (Middle Eastern Bedouins, NZ Māori, Pacific peoples), enabling improved diagnostics; knowledge is limited for most other groups.

Conclusions:

• Equitable access to IRD diagnosis for Indigenous Peoples requires engagement and co-designed approaches.
• Raising awareness and collective efforts are needed to overcome challenges and facilitate access to emerging treatments.
• Further research is needed to understand IRD prevalence and support needs in underrepresented Indigenous groups.