Monteiro J G, Martins A F, Figueira A, Saraiva M J, Costa P P
Servico de Oftalmologia, Hospital Geral de Santo António, Porto, Portugal.
Eye (Lond). 1991;5 ( Pt 1):99-105. doi: 10.1038/eye.1991.19.
Familial amyloid polyneuropathy (FAP) is a hereditary disease which eventually causes serious ocular problems. Seven eyes from patients with FAP 1 were vitrectomised, and the insoluble proteins from the vitreous were purified, the amyloid protein isolated, and the prealbumin characterised with a monoclonal antibody against amyloid fibril protein. Before surgery, visual acuity was very poor, due to abundant deposits in the vitreous, frequently attached to the posterior lens capsule. The pupil had peculiar indentations and the pupillary reflexes were abnormal. Intraocular pressure (IOP) was at the upper limit of normal. In the ocular fundus an intraretinal perifoveal gray ring was sometimes seen. Vitrectomy improved visual acuity, but the reappearance of vitreous deposits reduced it to 8.8/10 after 33.4 months, when treatment was needed for most of the eyes to control IOP. Amyloid and the mutant form of prealbumin characteristic of FAP 1, TTR Met 30, were shown to be present in the vitreous.
家族性淀粉样多神经病（FAP）是一种最终会导致严重眼部问题的遗传性疾病。对7例FAP 1型患者的眼睛进行了玻璃体切割术，纯化了玻璃体中的不溶性蛋白质，分离出淀粉样蛋白，并用抗淀粉样纤维蛋白单克隆抗体对前白蛋白进行了鉴定。手术前，由于玻璃体中大量沉积物，视力非常差，这些沉积物常附着于晶状体后囊。瞳孔有特殊凹陷，瞳孔反射异常。眼压（IOP）处于正常上限。在眼底有时可见视网膜内中心凹周围灰色环。玻璃体切割术提高了视力，但玻璃体沉积物再次出现后，33.4个月后视力降至8.8/10，此时大多数眼睛需要治疗以控制眼压。玻璃体中显示存在淀粉样蛋白和FAP 1型特有的前白蛋白突变形式TTR Met 30。
