A 46-year-old man underwent liver transplant at the age of 29 years for familial amyloid polyneuropathy (FAP) because of a mutation at codon 30 of the transthyretin gene (TTR), resulting in a methionine for valine substitution (Val30Met). He presented to our neurology clinic with deterioration of his general condition, weight loss of 10 kg within 1 year, gait disturbances, and short episodes of loss of consciousness. On clinical examination, the right pupil was larger than the left (Figure, A and B). The left pupil also had irregular outlines. Light reflex was weak on both sides without light-near dissociation, suggesting impairment of the parasympathetic innervation of the pupil. Further ophthalmologic evaluation disclosed vitreous opacities. Intraocular pressure was normal.

一名46岁的男性因家族性甲状腺淀粉样多发性神经病（FAP）在29岁时接受了肝移植，原因是转甲状腺素蛋白基因（TTR）的第30位密码子发生突变，从而产生了蛋氨酸替代缬氨酸（Val30Met）。他到我们的神经病学诊所就诊，发现他的一般状况恶化，1年内体重减轻10公斤，步态障碍和意识丧失的短暂发作。在临床检查中，右瞳孔大于左瞳孔（图A和B）。左瞳孔也有不规则的轮廓。没有近光离解的情况下，两侧的光反射都很弱，表明瞳孔的副交感神经支配能力受损。进一步的眼科评估发现玻璃体混浊。眼压正常。