Akiya S, Nishio Y, Ibi K, Uozumi H, Takahashi H, Hamada T, Onishi A, Ishiguchi H, Hoshii Y, Nakazato M
Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
Ophthalmology. 1996 Jul;103(7):1106-10. doi: 10.1016/s0161-6420(96)30560-5.
Finnish-type familial amyloidosis (FAP-IV) is an autosomal, dominantly inherited disorder characterized by progressive polyneuropathy and lattice corneal dystrophy type II. The vast majority of families with this disorder originated from Finland. Only two families, in neighboring districts, have been reported in Japan previously.
The authors report two additional Japanese patients with FAF-IV. The proband, a 70-year-old man, had decreased perspiration and abnormal facial muscle movement. Results of neurologic examination showed bilateral facial and hypoglossal nerve palsies, and an autonomic disturbance, including orthostatic hypotension and dysfunction of perspiration. Histochemical, immunohistological, and DNA studies confirmed the diagnosis of FAP-IV.
Results of ophthalmologic examination showed asymptomatic lattice corneal dystrophy of both eyes, but the appearance of the cornea was different from that described in the patients from Finland. Lattice lines in the authors' patient were very fine, short, and glassy and could be observed with indirect retroillumination, but might be missed with direct illumination by the slit-lamp microscope. The proband's younger half-sister, a 68-year-old woman, showed clinical findings and laboratory data similar to those of the proband.
The authors report two Japanese patients with lattice corneal dystrophy type II related to FAP-IV. This is the third Japanese family with this disorder, and there is no familial relationship to the two previously reported families in Japan.
芬兰型家族性淀粉样变性（FAP-IV）是一种常染色体显性遗传性疾病，其特征为进行性多发性神经病和II型格子状角膜营养不良。绝大多数患有这种疾病的家族起源于芬兰。此前在日本仅报道过两个位于相邻地区的家族。
作者报告另外两名患有FAF-IV的日本患者。先证者是一名70岁男性，有出汗减少和面部肌肉运动异常。神经学检查结果显示双侧面部和舌下神经麻痹，以及自主神经功能障碍，包括体位性低血压和出汗功能障碍。组织化学、免疫组织学和DNA研究证实了FAP-IV的诊断。
眼科检查结果显示双眼无症状性格子状角膜营养不良，但角膜外观与芬兰患者描述的不同。作者的患者中的格子状线条非常细、短且呈玻璃样，可通过间接后照法观察到，但裂隙灯显微镜直接照明时可能会遗漏。先证者的同父异母妹妹，一名68岁女性，表现出与先证者相似的临床发现和实验室数据。
作者报告了两名与FAP-IV相关的II型格子状角膜营养不良的日本患者。这是日本第三个患有这种疾病的家族，与日本之前报道的两个家族没有家族关系。
