{
  "abstract": "There is a paucity of treatment options for children with Albinism despite the vast majority being significantly visually impaired. Indeed, the WHO describes finding treatments for Albinism as a ‘Global Health Priority’. In previous work, we have demonstrated a post-natal window of opportunity for therapeutic intervention and the promise of LDOPA to rescue the developing visual system.In this presentation, we will summarise the evidence for a post-natal therapeutic window, the current ‘state of play’ regarding LDOPA as a therapeutic and report new research using compounds downstream of LDOPA in the melanogenesis pathway and the results of drug repurposing studies for OCA1.Results will include a summary of previous work by our group and others and the current ‘state of play’ regarding recruitment to drug trials and options for clinicians. They will also include results from laboratory work on other compounds besides LDOPA and include drug screening results and laboratory studies following a drug screen of circa 900 FDA-approved compounds on a novel, cell-based albinism assay we have developed.With the advent of genomic testing, more and more Albinism diagnoses are being made in the UK and more cases of ‘mild’ albinism are being diagnosed. Managing cases in paediatric ophthalmology clinics can be complex, from diagnosis to treatment. We hope to clarify the current ‘state of play’ in a fast-moving field of paediatric ophthalmic research, present novel research findings which are likely to be of general interest and help clinicians inform and best serve their young patients over the coming years.",
  "authors": [
    {
      "affiliations": [
        "University of Southampton, UK, University Hospital Southampton, UK"
      ],
      "name": "Jay Self"
    },
    {
      "affiliations": [
        "University of Southampton, UK, University Hospital Southampton, UK"
      ],
      "name": "Helena Lee"
    }
  ],
  "title": "125952 Drug treatments for albinism – on the near horizon?",
  "uid": "b69af6eb-a146-5448-ae0a-945bd4a38135"
}