Asaoka T, Amano S, Sunada Y, Sawa M
Department of Ophthalmology, University of Tokyo School of Medicine, Japan.
Jpn J Ophthalmol. 1993;37(4):426-31.
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV (Finnish type, Meretoja's syndrome, FAP-IV) has not been reported in Japan to date. In this study we report on 7 cases in a Japanese family which we recently examined. The proband, a 64-year-old man, suffering from itching in his limbs, impaired lip movement and dysarthria, consulted the Department of Neurology, University of Tokyo. Neurological examinations revealed bilateral facial, glossopharyngeal, vagal and hypoglossal nerve palsies, and also impaired distal vibratory perception. Immunohistological and biochemical studies confirmed the diagnosis of FAP-IV. Ophthalmological examinations showed his vision was 1.2 with fine lattice corneal dystrophy in both eyes. The lattice dystrophy was randomly scattered with short glassy lines. Corneal sensation was normal and there was no evidence of recurrent corneal erosion. Six family members with similar lattice corneal dystrophies also were suspected to be affected neurologically by FAP-IV. The family pedigree suggested an autosomal dominant trait of inheritance.
伴有IV型家族性淀粉样多神经病（芬兰型、梅雷托亚综合征、FAP-IV）的II型格子状角膜营养不良，迄今为止在日本尚未见报道。在本研究中，我们报告了我们最近检查的一个日本家族中的7例病例。先证者是一名64岁男性，因肢体瘙痒、唇部运动障碍和构音障碍，就诊于东京大学神经内科。神经学检查发现双侧面部、舌咽、迷走和舌下神经麻痹，同时远端振动觉受损。免疫组织学和生化研究证实了FAP-IV的诊断。眼科检查显示他的视力为1.2，双眼有细微的格子状角膜营养不良。格子状营养不良呈散在分布，伴有短的玻璃样线。角膜感觉正常，没有复发性角膜糜烂的迹象。另外6名患有类似格子状角膜营养不良的家族成员也被怀疑受到FAP-IV的神经学影响。家族谱系提示为常染色体显性遗传特征。
