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Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

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Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, DK2600, Denmark.
BGI-Shenzhen, Shenzhen, 518083, China.
China National GeneBank, BGI-Shenzhen, Shenzhen, 518120, China.
Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, Stockholm, S141 86, Sweden.
Department of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, Glostrup, DK2600, Denmark.
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, DK2600, Denmark.


Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnosis has become increasingly important especially due to expanding number of gene therapy strategies under development. Next generation sequencing (NGS) of gene panels has proven a valuable diagnostic tool in IRD. We present the molecular findings of 677 individuals, residing in Denmark, with IRD and report 806 variants of which 187 are novel. We found that deletions and duplications spanning one or more exons can explain 3% of the cases, and thus copy number variation (CNV) analysis is important in molecular genetic diagnostics of IRD. Seven percent of the individuals have variants classified as pathogenic or likely-pathogenic in more than one gene. Possible Danish founder variants in EYS and RP1 are reported. A significant number of variants were classified as variants with unknown significance; reporting of these will hopefully contribute to the elucidation of the actual clinical consequence making the classification less troublesome in the future. In conclusion, this study underlines the relevance of performing targeted sequencing of IRD including CNV analysis as well as the importance of interaction with clinical diagnoses.

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