Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

John Pei Wen Chiang, Tina Lamey, Terri McLaren, Jennifer A. Thompson, Hannah Montgomery, John De Roach

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


Next-generation sequencing, also known as massively paralleled sequencing, offers an unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a dramatic change from a few years ago. The specific involvement of the retina and the manageable number of genes to sequence make inherited retinal dystrophies an attractive model to study genotype-phenotype correlations. Costs are reducing rapidly and the current overall mutation detection rate of approximately 60% offers real potential for personalized medicine and treatments. This report addresses the challenges ahead, which include: better understanding of the mutation mechanisms of syndromic genes in apparent non-syndromic patients; finding mutations in patients who have tested negative or inconclusive; better variant calling, especially for intronic and synonymous variants; more precise genotype-phenotype correlations and making genetic testing more broadly accessible.

Original languageEnglish (US)
Pages (from-to)1269-1275
Number of pages7
JournalExpert Review of Molecular Diagnostics
Issue number10
StatePublished - Oct 3 2015
Externally publishedYes


  • LCA
  • NGS
  • Stargardt disease
  • genes
  • genetic testing
  • genotyping
  • inherited retinal dystrophy
  • molecular diagnosis
  • retina
  • retinitis pigmentosa

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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