{
  "abstract": "Case Presentation A 22-year-old woman presented with progressive bilateral blurred vision and sensations of her “eyes shaking” since age 16 when she also developed diabetes mellitus. Family history included her mother who also had diabetes and 2 maternal first cousins with severe congenital deafness requiring cochlear implants.Examination findings were visual acuities 6/36 bilaterally, absent colour vision, gross optic disc pallor, and bilateral pendular presumed congenital nystagmus. Examination was otherwise normal.Blood vitamin B12, folate, thyroid function syphilis, aquaporin-4 and MOG antibodies were normal. HbA1C was 94. Visual-evoked potentials were bilaterally symmetrically prolonged with P100 140milliseconds. OCT showed bilateral significant optic pallor with reduced ganglion cell layer thickness. MRI brain and orbits revealed small optic nerves and chiasm. Genetic testing was positive for autosomal recessive Wolfram Syndrome 1. She is currently registered blind with appropriate follow up.Discussion Wolfram Syndrome, also known by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) is autosomal recessive, very rare (prevalence 1:500,000) with mutations in the WFS1 gene encoding the Wolframin protein. Other features are deafness, urinary outflow obstruction and ataxia. Current management is focussed on symptom control with no definitive treatment and life expectancy poor.anitkunan@nhs.net",
  "authors": [
    {
      "affiliations": [
        "St George’s Hospital"
      ],
      "name": "Yan Angela"
    },
    {
      "affiliations": [
        "Croydon University Hospital"
      ],
      "name": "Schon Fred"
    },
    {
      "affiliations": [
        "Croydon University Hospital"
      ],
      "name": "Nitkunan Arani"
    }
  ],
  "title": "18 Bilateral optic neuropathy-a rare cause in a young adult",
  "uid": "0735cb8d-5598-52bc-85da-508e9272785f"
}