XXXX in two Japanese families with unusual clinical features.

@entity1 @entity227 @entity8111 @entity66 @entity548 @entity2318 @entity20831 @entity1020
PURPOSE: To describe two Japanese families with @entity20831 ( @entity20831 ) with unusual clinical features. METHODS: Two families from Kagoshima Prefecture with senile-onset @entity1020 were examined. Three affected individuals through three successive generations of one family and three affected siblings in another family were examined and followed. RESULTS: The initial symptom of these @entity1 was a rapid or slow central @entity227 that occurred at an average age of 67.4 years. The major ophthalmoscopic changes consisted of soft drusen and @entity548 or @entity66 in the macula, which were progressive and ultimately led to disciform @entity2318 . They had no difficulty with night vision. All the @entity1 had normal peripheral retina with intact peripheral fields. They maintained good ambulatory vision and could walk unguided until late in life. These @entity1 had a novel mutation in the tissue inhibitor of the metalloproteinases-3 ( @entity8111 ) gene. CONCLUSIONS: This is the first report of @entity20831 from the East. Its clinical features differ from those of @entity20831 @entity1 of the West, appearing closer to features of age-related @entity1020 . These two unrelated Japanese families with an identical mutation in the @entity8111 gene might be descendants of a common ancestor who carried the mutant gene.
