September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Non-coding cis-acting genetic defects in inherited blindness: from targeted locus resequencing to interpretation
Author Affiliations & Notes
  • Elfride De Baere
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent , Belgium
  • Footnotes
    Commercial Relationships   Elfride De Baere, None
  • Footnotes
    Support  Research Foundation Flanders (FWO G0C6715N), Ghent University Special Research Fund (BOF15/GOA/011), Belspo IAP project P7/43 (Belgian Medical Genomics Initiative: BeMGI).
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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      Elfride De Baere; Non-coding cis-acting genetic defects in inherited blindness: from targeted locus resequencing to interpretation. Invest. Ophthalmol. Vis. Sci. 201657(12):.

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      © ARVO (1962-2015); The Authors (2016-present)

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Presentation Description : Over 200 disease genes have been implicated in retinal dystrophies (RDs), accounting for only ~50% of cases. Although most mutations underlying RDs are located in coding regions, it can be anticipated that part of the missing genetic variation in RD is located in non-coding regions of the genome such as untranslated regions (UTRs), the core promoter, deep intronic regions influencing cis-acting splicing or in more distant regulatory regions such as enhancers. Several examples are a deletion of the first non-coding exon of EYS and LCA5; a mutation in the donor splice site of the first non-coding exon of EYS; 5’UTR mutations in NMNAT1; deep intronic variants in ABCA4, CEP290, USH2A and PROM1 leading to alternate splicing. This presentation will provide an overview of locus-specific approaches for identification of non-coding genetic defects and for their interpretation.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.


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