Article open access publication

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

PLoS ONE, Public Library of Science (PLoS), ISSN 1932-6203

Volume 11, 1, 2016

DOI:10.1371/journal.pone.0145951, Dimensions: pub.1035632663, PMC: PMC4713063, PMID: 26766544,



  1. (1) Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
  2. (2) Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany
  3. (3) CeGaT (Germany), grid.498061.2
  4. (4) Charité, grid.6363.0
  5. (5) Lund University, grid.4514.4
  6. (6) University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
  7. (7) Retina Foundation of the Southwest, grid.419187.2
  8. (8) University Hospital of Montpellier, grid.157868.5
  9. (9) University of Michigan, grid.214458.e
  10. (10) University of Pennsylvania, grid.25879.31
  11. (11) Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany
  12. (12) Institute of Human Genetics, Julius-Maximilian-University, Wuerzburg, Germany
  13. (13) Azienda Ospedaliera di Padova, grid.411474.3
  14. (14) University of Freiburg, grid.5963.9
  15. (15) Heidelberg University, grid.7700.0
  16. (16) Rigshospitalet, grid.475435.4, Capital Region
  17. (17) University Eye Hospital, Ludwig Maximilians University, Munich, Germany
  18. (18) Semmelweis University, grid.11804.3c
  19. (19) University of Pecs, grid.9679.1
  20. (20) Oregon Health & Science University, grid.5288.7


Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes.


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