Neuro-Ophthalmology

Case 17

Contributor:
Marko Tien (University of British Columbia Medical Student)

Patient Presentation: A 21-year-old man was referred to an ophthalmology clinic for evaluation of bilateral vision loss. The patient endorsed decreased vision in both eyes starting ten years ago, which has worsened gradually over time in both eyes. He also reports some reduced hearing bilaterally. He ate a healthy, balanced diet and was taking no medications. On examination, his visual acuity was 20/150 OU with normal sized pupils and no RAPD. Visual fields showed a ceco-central defect bilaterally. 

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Question: OCT RNFL and fundus photos were performed and shown above. Which abnormality is seen?

Ganglion Cell Inner Plexiform Layer (GCIPL) Analysis was also performed and shows generalized thinning in both eyes (shown below).

Question: Given the OCT findings and patient presentation, what is the most likely diagnosis?

Question: Which of the following can cause DOA?

References:

  1. Alexander, C., Votruba, M., Pesch, U. E., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S. S., & Wissinger, B. (2000). OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature genetics, 26(2), 211–215. https://doi.org/10.1038/79944

  2. Behbehani R. (2007). Clinical approach to optic neuropathies. Clinical ophthalmology (Auckland, N.Z.), 1(3), 233–246.

  3. Votruba, M., Thiselton, D., & Bhattacharya, S. S. (2003). Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. The British journal of ophthalmology, 87(1), 48–53. https://doi.org/10.1136/bjo.87.1.48

Learning Objectives:

1.    To recognize the natural history and exam findings of hereditary optic neuropathies
2.    To distinguish the cause of DOA from other inherited optic neuropathies