Hamann, Steffen1; Jensen, Peter Koch2; Fledelius, Hans Callø1
1 Øjenklinikken, HovedOrtoCentret Rigshospitalet, Rigshospitalet, The Capital Region of Denmark2 Dermatology and Allergy, Herlev and Gentofte Hospital, The Capital Region of Denmark
Amyloidogenic transthyretin (ATTR)-related familial amyloidotic polyneuropathy (FAP) is an autosomal-dominant hereditary disease characterised by slowly progressive peripheral sensorimotor and autonomic neuropathy and tissue involvement of the heart, kidneys and central nervous system. Secondary glaucoma has been reported following intraocular surgery, but optic nerve involvement unrelated to glaucoma has not previously been described. We reported a male patient in his late 40s when deceased, who previously had a liver transplant in order to reduce the abnormal protein synthesis underlying his FAP ATTR Val30Met mutation. After 11 years of ophthalmic follow-up best-corrected visual acuity was 20/100 in his seeing eye, which further had visual field findings suggestive of optic neuropathy. This was also the diagnosis underlying the preceding insidious full loss of vision in the fellow eye, with colour Doppler imaging to support an ischaemic aetiology. To our knowledge, this is the first report of ischaemic optic neuropathy in this familial amyloid disorder.