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[Optic neuropathy in biotinidase deficiency].

AbstractCLINICAL CASE:
We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement.
DISCUSSION:
When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.
AuthorsD Puertas Bordallo, C Martín Reyes, M L Ruiz-Falcó Rojas, A Duat Rodríguez, M I Valls Ferrán
JournalArchivos de la Sociedad Espanola de Oftalmologia (Arch Soc Esp Oftalmol) Vol. 79 Issue 8 Pg. 393-6 (Aug 2004) ISSN: 0365-6691 [Print] Spain
Vernacular TitleNeuropatía óptica por déficit de biotinidasa.
PMID15306966 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References
  • Biotin
Topics
  • Biotin (therapeutic use)
  • Biotinidase Deficiency (complications, diagnosis, drug therapy)
  • Child
  • Fundus Oculi
  • Humans
  • Male
  • Optic Nerve Diseases (diagnosis, drug therapy, etiology)
  • Treatment Outcome
  • Vision Disorders (diagnosis, drug therapy, etiology)
  • Visual Acuity
  • Visual Field Tests

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