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Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions
Sujin Kang1, Byron L Lam1, Winston Lee1
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.
Journal of Personalized Medicine
|June 25, 2026
Summary
Genetic testing for inherited retinal diseases (IRDs) has advanced significantly, improving diagnosis and enabling gene-directed therapies. Challenges in cost, access, and variant interpretation persist, but new technologies promise further progress.
Area of Science:
- Ophthalmology
- Genetics
- Medical Diagnostics
Background:
- Inherited retinal diseases (IRDs) cause significant visual impairment globally, characterized by genetic and phenotypic diversity.
- Prevalence in the U.S. is nearly 1 in 1000, indicating a substantial disease burden and improved diagnostic capabilities.
Purpose of the Study:
- To review the evolution of genetic testing methodologies for IRDs.
- To highlight the impact of advanced sequencing and interpretation frameworks on diagnostic yield.
- To discuss current barriers and future directions in molecular diagnostics for IRDs.
Main Methods:
- Review of literature tracing the progression from linkage analysis to next-generation sequencing (NGS) techniques.
- Examination of phenotype-driven testing and standardized variant interpretation guidelines.
- Inclusion of advanced techniques like copy number variation detection, transcriptomics, and functional assays.
Main Results:
- High-throughput NGS, including panel, exome, and genome sequencing, has dramatically increased diagnostic yield.
- Standardized interpretation frameworks (e.g., ACMG guidelines) enhance accuracy.
- Molecular confirmation is crucial for accessing gene-directed therapies and clinical trials.
Conclusions:
- Despite progress, barriers like cost, access, and variant interpretation challenges remain.
- Emerging technologies (AI, multi-omics) are crucial for bridging molecular and clinical data.
- Future advancements require improved access, standardized regulations, and integration of new technologies into clinical practice.
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