A 19-year-old man presents to the acute medical unit with gradual progressive bilateral ptosis | Medibuddy
29th February 2024

A 19-year-old man presents to the acute medical unit with gradual progressive bilateral ptosis

A 19-year-old man presents to the acute medical unit with gradual progressive bilateral ptosis. His ptosis is symmetrical; mild ophthalmoplegia is noted in all gaze directions on examination. This does not appear to worsen with repeated movements. His optometrist had noted bilateral diffuse stippling of the retina on fundoscopy. A routine ECG performed on admission has shown a complete right bundle branch block.

Given the likely diagnosis, what are the chances that his daughter would have inherited the condition if his wife did not have the condition?

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