The current status of molecular diagnosis of inherited retinal dystrophies

John Pei Wen Chiang, Karmen Trzupek

Research output: Contribution to journalReview articlepeer-review

32 Scopus citations


Purpose of review We are witnessing lightning-fast advances in the molecular diagnosis of inherited retinal dystrophies, mainly due to the widespread use of next-generation sequencing technologies. The purpose of this review is to highlight the breadth of findings from this in-depth testing approach, and to propose changes to our traditional testing and diagnostic paradigms. Lessons learned from modern molecular testing suggest that the previous concept of inherited retinal dystrophies as a group of 'single gene diseases' may require a significant update. Recent findings All of the known retinal dystrophies genes can now be sequenced. In many cases, this nonhypothesis driven testing strategy is uncovering mutations in unsuspected genes, generating data that challenges established concepts of genetic mechanisms and provides insights regarding genes previously thought to be exclusively related to syndromic disease. Recent advances in testing have improved not only the breadth, but also the depth of genetic data. For example, deep intronic sequencing has uncovered many novel intronic mutations/variations in the ABCA4 gene. Summary Currently, in approximately 50-60% of patients with nonsyndromic retinal dystrophy, the disease mechanism can be identified. The presence of pathogenic alleles in more than one gene is not uncommon. Retinal dystrophy, with relatively defined clinical presentations and a large but limited number of genes involved, is becoming a model for the next-generation study of molecular disease mechanisms.

Original languageEnglish (US)
Pages (from-to)346-351
Number of pages6
JournalCurrent opinion in ophthalmology
Issue number5
StatePublished - Jul 1 2015
Externally publishedYes


  • Genetic testing
  • Molecular diagnosis
  • Mutation
  • Retinal dystrophy
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Ophthalmology


Dive into the research topics of 'The current status of molecular diagnosis of inherited retinal dystrophies'. Together they form a unique fingerprint.

Cite this