Purpose:
To present a case of suspected Leber's hereditary optic neuropathy (LHON) with MRI and OCT findings compatible with pseudotumor cerebri responsive to acetazolamide therapy.
Case report:
A five-year-old boy referred to our clinic with optic atrophy and low vision was originally diagnosed with LHON. Laboratory tests were negative for LHON, while OCT and MRI were consistent with pseudotumor cerebri. Acetazolamide therapy resulted in dramatic improvement of visual acuity.
Conclusion:
Some cases of previously labeled hereditary optic neuropathies with clinical signs of idiopathic intracranial hypertension could respond to intracranial pressure lowering treatment.