Topic outline

  • Grand Rounds

    An 18-year-old male presented to the ER with bilateral decreased vision and eye pain for 10 days. His visual acuity was HM OD, 20/300 OS. He was noted to have disc pallor OD and temporal pallor with slight nasal elevation OS on fundus exam. His MRI showed T2 hyper intensity in the chiasm along with enhancement of right optic nerve orbital segment and left optic nerve pre-chiasmatic segment. He was diagnosed with optic neuritis and was treated with 10 days of IV steroid without any improvement. His laboratory tests for optic neuritis were all negative. Subsequently a molecular vision panel was ordered which showed mutation in ND4 gene and he was diagnosed to have LHON. His participation in the LHON gene therapy trial was deferred at this stage as the disease was active. His 7-year-old maternal cousin presented to the clinic similarly with low vision, 20/400 OU and pale optic nerves. Molecular vision panel testing identified the same genetic mutation as his uncle. We describe two affected members of a family having the same LHON mutation and discuss regarding presentation, course, visual outcomes and treatment modalities available for LHON including gene therapy.

    Presentation Date: 03/18/2021
    Issue Date: 04/02/2021