April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Mutation Analysis Of The OPN1LW And OPN1MW Cone Opsin Genes In A Cohort Of British Families With Blue Cone Monochromacy
Author Affiliations & Notes
  • Alison J. Hardcastle
    UCL Institute of Ophthalmology, London, United Kingdom
  • Jessica C. Gardner
    UCL Institute of Ophthalmology, London, United Kingdom
  • Yinghua Quan
    UCL Institute of Ophthalmology, London, United Kingdom
  • Andrew Stockman
    UCL Institute of Ophthalmology, London, United Kingdom
  • Graham E. Holder
    Moorfields Eye Hospital, London, United Kingdom
  • Naheed Kanuga
    UCL Institute of Ophthalmology, London, United Kingdom
  • Tom R. Webb
    UCL Institute of Ophthalmology, London, United Kingdom
  • Anthony T. Moore
    Moorfields Eye Hospital, London, United Kingdom
  • Michel Michaelides
    Moorfields Eye Hospital, London, United Kingdom
  • Footnotes
    Commercial Relationships  Alison J. Hardcastle, None; Jessica C. Gardner, None; Yinghua Quan, None; Andrew Stockman, None; Graham E. Holder, None; Naheed Kanuga, None; Tom R. Webb, None; Anthony T. Moore, None; Michel Michaelides, None
  • Footnotes
    Support  Fight for Sight UK, Moorfields Special Trustees and the National Institute for Health Research UK to the Biomedical Research Centre for Ophthalmology at Moorfields and the Insititute
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5386. doi:
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      Alison J. Hardcastle, Jessica C. Gardner, Yinghua Quan, Andrew Stockman, Graham E. Holder, Naheed Kanuga, Tom R. Webb, Anthony T. Moore, Michel Michaelides; Mutation Analysis Of The OPN1LW And OPN1MW Cone Opsin Genes In A Cohort Of British Families With Blue Cone Monochromacy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5386.

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

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Abstract

Purpose: : To determine the underlying molecular cause of Blue Cone Monochromacy (BCM) in British families and correlate genotype with phenotype.

Methods: : Molecular analysis involved amplification of the coding regions of the OPN1LW and OPN1MW cone opsin genes and their promoters and upstream locus control region (LCR) by polymerase chain reaction. Gene products were directly sequenced and analysed. Detailed electrophysiological and psychophysical testing are currently being performed.

Results: : We have identified ‘one-step’ LCR deletions in 3 families which vary in extent. In another family, the entire opsin array was found to be deleted. The extent of the deletion was defined and flanking genes (MECP2 and TKTL1) were found to be present. We also identified 3 families who have a ‘two-step’ mutation mechanism leading to a single 5’L-M3’ hybrid gene with an inactivating C203R mutation in exon 4.

Conclusions: : This is the first time LCR deletions have been identified in British BCM patients, confirming that this ‘one-step’ mechanism is a common cause of BCM. Interestingly another patient was deleted for the entire opsin array; at present BCM is the only phenotype observed in this patient. The previously described inactivation mutation (C203R) was found in 3 different hybrid genes, again confirming that this is a common cause of BCM. Loss of colour discrimination and visual acuity in BCM is severe but usually stationary, with progression reported in a small number of cases. Follow up phenotyping studies of the genotyped families are underway to assess for signs of progression.

Keywords: color vision • gene screening • opsins 
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