Abstract:Goal: This paper describes a case of a long-term monitoring of a patient with optic nerve swelling on the ocular background (papilledema), accompanied by symptoms of intracranial hypertension, on whom a genetic examination was performed as part of differential diagnosis, confirming Leber Hereditary Optic Neuropathy with the m.3460G>A mutation.
Casuistry: During the examination of a 5-year-old patient after an alleged head injury at a bouncy castle, an optic nerve papilla with unclear boundaries was describe… Show more
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