Cortical Visual Impairment in the absence of ON pathway signals

  • Research type

    Research Study

  • Full title

    Cortical Visual Impairment in the absence of ON pathway signals

  • IRAS ID

    158971

  • Contact name

    Dorothy Thompson

  • Contact email

    Dorothy.Thompson@gosh.nhs.uk

  • Duration of Study in the UK

    4 years, 0 months, 1 days

  • Research summary

    Cortical visual impairment (CVI) is the most common reason for early severe visual impairment or blindness in children in the UK. There can be many causes of CVI, most commonly perinatal hypoxia, but also insults in pregnancy, prematurity, trauma, infection, genetic or metabolic disease. Irrespective of cause, CVI is defined as a bilateral loss of visual acuity (that is not caused by the eye itself), yet CVI can encompass a broad range of visual impairments. The patterns of visual loss in CVI have been rarely studied systematically.
    The study aims at enabling better interpretation of the patterns of visual loss in patients with CVI. It does so by investigating the visual network of the ON pathway and the impact of its dysfunction on cortical vision. The associations between the patterns of visual loss and fixation instability in patients with ON-pathway dysfunction will explicitly be the focus of the research. Such phenotypes often appear in diseases like Duchenne Muscular Dystrophy and Congenital Stationary Night Blindness. Furthermore, these detailed visual phenotypes will be correlated with the genotype to better understand the protein interactions and markers involved in ON-pathway signalling that are associated with better visual outcome. In addition, another aim will be to develop a new toolkit of electrophysiological stimuli to probe and distinguish the different visual pathways and their application in a clinical setting.
    Being able to measure and interpret altered function in patients with CVI and other neurological conditions is essential for provision of the most appropriate support and to monitor intervention in the future.

  • REC name

    London - South East Research Ethics Committee

  • REC reference

    14/LO/2136

  • Date of REC Opinion

    26 Jan 2015

  • REC opinion

    Further Information Favourable Opinion