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Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.

Mariam Ibrahim1, Alain Chebly2, Said El Shamieh1

  • 1Molecular Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.

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|February 24, 2026
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Summary

Long-read sequencing (LRS) enhances genetic diagnosis for inherited retinal dystrophies (IRDs) by identifying complex variants missed by short-read methods. This review highlights LRS

Keywords:
Inherited retinal dystrophiesLong-read sequencingMissing heritabilityNext-generation sequencingVariants

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Area of Science:

  • Genetics
  • Ophthalmology
  • Genomic Medicine

Background:

  • Inherited retinal dystrophies (IRDs) are a leading cause of blindness, affecting ~1 in 3000 individuals.
  • Next-generation sequencing (NGS) has improved diagnosis but leaves ~30% of IRD cases genetically unsolved.
  • Long-read sequencing (LRS) offers a complementary approach to identify complex variants like structural and deep intronic mutations.

Purpose of the Study:

  • To systematically review the application and impact of LRS in the genetic diagnosis of IRDs.
  • To synthesize findings on LRS's ability to identify previously elusive genetic variants in IRD patients.
  • To assess the potential role of LRS in bridging the diagnostic gap in IRD genetics.

Main Methods:

  • Systematic literature search of PubMed for studies on LRS in IRD genetics (2018-2025).
  • Inclusion criteria: LRS application for human IRD diagnosis, English full-text, reported variants.
  • Data synthesis followed PRISMA guidelines; quality assessed using established tools.

Main Results:

  • Identified 88 IRD variants using LRS, including 31% structural, 31% single nucleotide, 19% splice site, 11% indels, and 8% deep intronic.
  • LRS expanded the known IRD genetic landscape, identifying or refining variants in 34 genes across 81 patients.
  • LRS demonstrated utility in phasing and resolving challenging genomic regions.

Conclusions:

  • LRS effectively addresses limitations of short-read sequencing for IRD genetic diagnosis.
  • While analytical rigor is high, most studies lack formal diagnostic accuracy metrics.
  • Further prospective studies are needed to establish LRS's clinical utility and implementation standards for IRDs.