{
  "abstract": "Gyrate atrophy is a rare autosomal recessive disorder caused by a mutation in the ornithine-δ-amino transferase gene. We present an interesting case of a 33-year-old woman who presented with increasing myopia, nyctalopia and failing vision. Examination revealed posterior subscapsular cataracts, narrowed peripheral visual fields and scalloped atrophic peripheral chorioretinal lesions. Blood investigations showed a raised plasma ornithine level at 917 μmol/L (normal range: 32–88 μmol/L) confirming the diagnosis of gyrate atrophy. The patient, despite not tolerating dietary treatment, had retained central vision over a follow-up period of 18 years. The electroretinogram, which normally diminishes with disease progression, was still nearly normal when last tested at 16 years follow-up. Genetic testing did not reveal any novel mutation that could account for this variation.",
  "authors": [
    {
      "affiliations": [
        "Department of Ophthalmology, Royal Bolton Hospital, Bolton, UK"
      ],
      "name": "Kirti M Jasani"
    },
    {
      "affiliations": [
        "Vision Science Centre, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK",
        "Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK"
      ],
      "name": "Neil R A Parry"
    },
    {
      "affiliations": [
        "Vision Science Centre, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK",
        "Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK"
      ],
      "name": "Graeme Black"
    },
    {
      "affiliations": [
        "Department of Ophthalmology, Royal Bolton Hospital, Bolton, UK"
      ],
      "name": "Simon P Kelly"
    }
  ],
  "title": "Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG)",
  "uid": "d35f1324-09aa-5f69-94dd-d467ac53123e"
}