Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.
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.
Barboni
Piero
P
Centro di Oftalmologia Salus, via Saffi 4H, 40131 Bologna, Italy. p.barboni@eyeproject.com
Savini
Giacomo
G
Plazzi
Giuseppe
G
Bellan
Marzio
M
Valentino
Maria Lucia
ML
Zanini
Maurizio
M
Montagna
Pasquale
P
Hirano
Michio
M
Carelli
Valerio
V
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
D013939:Thymidine Phosphorylase