title: Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.
abstract: OBJECTIVE
  To describe the ocular features of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) due to a homozygous G1443A mutation in the thymidine-phosphorylase gene.
  
  
  METHODS
  A case report with extensive ophthalmological investigation over a 9-year period, until death at age 38 years. Measures used included standard ophthalmological examination, visual field examination and optical coherence tomography (OCT).
  
  
  RESULTS
  Ptosis and external ophthalmoplegia progressively worsened during the follow-up, as did the neurological and general status. Corneal and optic disc alterations were also observed at the last visit. Glaucomatous changes of the optic disc were confirmed by the visual field examination and OCT.
  
  
  CONCLUSIONS
  In addition to previously described alterations such as ptosis and external ophthalmoplegia, MNGIE may be associated with glaucomatous-like optic neuropathy.
authors.affiliation: Centro di Oftalmologia Salus, via Saffi 4H, 40131 Bologna, Italy. p.barboni@eyeproject.com
authors.forename: Piero
authors.initials: P
authors.lastname: Barboni
authors.forename: Giacomo
authors.initials: G
authors.lastname: Savini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Plazzi
authors.forename: Marzio
authors.initials: M
authors.lastname: Bellan
authors.forename: Maria Lucia
authors.initials: ML
authors.lastname: Valentino
authors.forename: Maurizio
authors.initials: M
authors.lastname: Zanini
authors.forename: Pasquale
authors.initials: P
authors.lastname: Montagna
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003316:Corneal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017809:Fatal Outcome; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009886:Ophthalmoplegia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009898:Optic Disk / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017354:Point Mutation; D013939:Thymidine Phosphorylase / Q000235:genetics; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests; D014794:Visual Fields
chemical_list: D013939:Thymidine Phosphorylase