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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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  1. Home
  3. Inherited Retinal Disease In Global Indigenous Populations: A Scoping Review.
  1. Home
  3. Inherited Retinal Disease In Global Indigenous Populations: A Scoping Review.

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

Emma C Tovey Crutchfield1, Andrea L Vincent2, Mitchell D Anjou3

  • 1Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia; Minum Barreng: Indigenous Eye Health Unit, Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, Australia; Department of Ophthalmology, Royal Melbourne Hospital, Melbourne Health, Parkville, VIC, Australia.

Survey of Ophthalmology
|June 13, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Diagnosing inherited retinal diseases (IRDs) in Indigenous Peoples is crucial for accessing gene therapies. This review highlights disparities and calls for co-designed approaches to improve equitable access to diagnosis and treatment for all Indigenous communities globally.

Keywords:
Bardet-Biedl syndromeGenetic diversityGlobal Indigenous populationsHealth equityInherited retinal diseaseRod-cone dystrophyScoping review

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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.