Case of the Month I May 2020

Case of the Month
May 18, 2020

The Case

The patient was a 28 year old man with a history of severe alcohol abuse and poor nutrition who presented with decreased vision in both eyes for about two months. He was otherwise in good health. He denied using non-commercially produced alcoholic beverages. His past medical history was otherwise unremarkable.

The visual acuity was 20/400 OD and 20/200 OS. The clinical examination was unremarkable, except for the appearance of the optic discs. The visual field test, which had many fixation losses attributable to the decreased visual acuity, showed a cecocentral scotoma in each eye. What was the most likely diagnosis? What treatment, if any, would you recommend?

The patient likely had nutritional amblyopia, which is due to a deficiency of B-complex vitamins (particularly thiamine). It is characterized by temporal optic nerve pallor and cecocentral scotomas. By the time the patient had laboratory testing, he had taken B-complex vitamins for about one month. Laboratory testing revealed normal B12 and folate, moderately reduced vitamin B6, and elevated thiamine. There were elevated liver function tests. An MRI of the optic nerves and brain was unremarkable. Unfortunately, the vision did not improve after initiating vitamin supplementation.

There are other causes of cecocentral scotomas. Optic neuritis typically afflicts younger adults and can be bilateral. Our patient’s normal MRI argues against this diagnosis. There was peripheral neuropathy, but alcohol abuse could explain this problem. Another consideration is Leber's hereditary optic neuropathy, which has an onset in early adult and is more frequent in males (80-90%). There are several toxic optic neuropathies, including methanol, which typically causes more diffuse optic nerve damage. Anterior ischemic optic neuropathy usually results in superior or inferior disc pallor, and generally patients are older.

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The patient likely had nutritional amblyopia, which is due to a deficiency of B-complex vitamins (particularly thiamine). It is characterized by temporal optic nerve pallor and cecocentral scotomas. By the time the patient had laboratory testing, he had taken B-complex vitamins for about one month. Laboratory testing revealed normal B12 and folate, moderately reduced vitamin B6, and elevated thiamine. There were elevated liver function tests. An MRI of the optic nerves and brain was unremarkable. Unfortunately, the vision did not improve after initiating vitamin supplementation.

There are other causes of cecocentral scotomas. Optic neuritis typically afflicts younger adults and can be bilateral. Our patient’s normal MRI argues against this diagnosis. There was peripheral neuropathy, but alcohol abuse could explain this problem. Another consideration is Leber's hereditary optic neuropathy, which has an onset in early adult and is more frequent in males (80-90%). There are several toxic optic neuropathies, including methanol, which typically causes more diffuse optic nerve damage. Anterior ischemic optic neuropathy usually results in superior or inferior disc pallor, and generally patients are older.

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