Related Experiment Video
Updated: Aug 25, 2026
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report
Piero Barboni1, Giacomo Savini, Giuseppe Plazzi
1Centro di Oftalmologia Salus, via Saffi 4H, 40131 Bologna, Italy. p.barboni@eyeproject.com
Purpose:
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.
Conclusion:
In addition to previously described alterations such as ptosis and external ophthalmoplegia, MNGIE may be associated with glaucomatous-like optic neuropathy.
