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Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED

Wendy M Wong1, Yih Chung Tham2, Lauren N Ayton3

  • 1Centre for Innovation & Precision Eye Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Ophthalmology, National University Hospital, National University Health System, Singapore.

Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)
|October 4, 2024
PubMed
Summary
This summary is machine-generated.

This study highlights significant gaps in managing inherited retinal diseases (IRD) across the Asia-Pacific (APAC) region, including limited genetic testing and low-vision rehabilitation access. Findings reveal a need for improved IRD databases, genetic counseling, and standardized functional assessments.

Keywords:
Genetic counsellingGenotypingInherited retinal diseaseLow-vision rehabilitationPhenotyping

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Area of Science:

  • Ophthalmology
  • Genetics
  • Public Health

Background:

  • Inherited retinal diseases (IRDs) represent a significant cause of visual impairment globally.
  • Effective management of IRDs requires comprehensive genotyping, phenotyping, and rehabilitation strategies.
  • The Asia-Pacific (APAC) region presents unique challenges and opportunities in healthcare delivery for rare diseases.

Purpose of the Study:

  • To assess the current status of genotyping, phenotyping, and vision rehabilitation services for IRDs in the APAC region.
  • To identify existing gaps and areas for improvement in IRD care delivery within the APAC.
  • To provide a benchmark for future strategies aimed at enhancing IRD management in the region.

Main Methods:

  • A 62-item electronic questionnaire was distributed to 45 centers across 12 APAC countries/regions.
  • The survey covered IRD service structure, registries, genotyping, genetic counseling, phenotyping, and low-vision rehabilitation.
  • Data from 36 responding centers were analyzed to evaluate current practices.

Main Results:

  • 39% of centers lack an IRD database/registry; 44% have genetically tested less than a quarter of their patients.
  • 67% of centers reported no access to genetic counselors, and significant heterogeneity exists in functional testing methods.
  • Access to low-vision assistive devices was confirmed by only 34% of centers.

Conclusions:

  • Critical gaps exist in IRD management in the APAC region, including insufficient genetic diagnosis and limited access to genetic counselors.
  • There is a pressing need to establish robust IRD databases and registries.
  • Harmonization of functional vision assessment methods and improvement of low-vision rehabilitation services are essential for better patient outcomes.