Rare cause of blindness in patient with nasal polyposis: Lebers hereditary neuropathy of the optic nerve
Abstract
A 46year old man was send for further examination from the Department of Ophthalmology for nasal polyposis and blurring of paranasal sinuses on the CT and MRI scans. He was examined for almost complete loss of vision first on the left eye and after 7 months for worsening of vision on the right eye.
Step by step infectious, vascular and toxic ethiology, sclerosis multiplex and Wegener graulomatosis were excluded. In the ophthalmological examination an atrophy of optic nerve on the left eye and oedema of optic disc on the right eye was described.
This finding was suspicious from invasive mycotic sinusitis or compression of the optic nerve. None of these were confirmed after a FESS was made.
Consequently mitochondrial DNA mutation causing Leber hereditary optic atrophy (LHON) was considered. The patient was send for a genetic examination which confirmed a homoplasmic mutation 11778G>A specific for LHON.