Factor V Leiden mutation in association with idiopathic intracranial hypertension

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Abstract
A 20 year old obese white female presented to the ophthalmic department with transient obscurations of vision. She had not been taking the oral contraceptive pill. Snellen visual acuity was right eye 6/12, left eye 6/12 and gross papilloedema with macular stars was noted. Computerised tomography and magnetic resonance angiography were normal and a lumbar puncture showed an opening pressure of 75 cm of water. CSF protein, glucose, and cell count were normal as were U&Es, LFTs, TFTs, glucose, full blood count, and plasma viscosity. She was started on 250 mg of Diamox four times daily and advised to lose weight. Over the next few days acuity reduced to right eye 6/24, left eye 3/60 with extensive field restriction. Urgent optic nerve fenestration of the left eye was undertaken followed by the right 12 days later as acuity began to worsen in this eye also. Partial recovery occurred with Snellen visual acuities of right eye 6/60, left eye 6/36 but, unfortunately, the extensive field restriction remained. On thrombophilia screening, the APC resistance ratio was reduced at 1.9 (normal 2.2–4.2) on two occasions and a heterozygous factor V Leiden mutation was identified. She was referred to the haematology department to consider anticoagulation which, on discussion, was not undertaken as she was thinking of planning a family.

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