LATTICE CORNEAL-DYSTROPHY TYPE-II ASSOCIATED WITH FAMILIAL AMYLOID POLYNEUROPATHY TYPE-IV

Background: Finnish-type familiar amyloidosis (FAP-IV) is an autosomal , dominantly inherited disorder characterized by progressive polyneuro pathy and lattice corneal dystrophy type II. The vast majority of fami lies with this disorder originated from Finland. Only two families, in neighboring districts, have been reported in Japan previously. Method s: The authors report two additional Japanese patients with FAF-IV. Th e proband, a 70-year-old man, had decreased perspiration and abnormal facial muscle movement. Results of neurologic examination showed bilat eral facial and hypoglossal nerve palsies, and an autonomic disturbanc e, including orthostatic hypotension and dysfunction of perspiration. Histochemical, immunohistological, and DNA studies confirmed the diagn osis of FAR-IV. Results: Results of ophthalmologic examination showed asymptomatic lattice corneal dystrophy of both eyes, but the appearanc e 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 clinic al findings and laboratory data similar to those of the proband. Concl usion: The authors report two Japanese patients with lattice corneal d ystrophy type II related to FAR-IV. This is the third Japanese family with this disorder, and there is no familial relationship to the two p reviously reported families in Japan.