Sorsby's fundus dystrophy in two Japanese families with unusual clinical features

Purpose: To describe two Japanese families with Sorsby's fundus dystrophy ( SFD) with unusual clinical features. Methods: Two families from Kagoshima Prefecture with senile-onset macular d ystrophy were examined. Three affected individuals through three successive generations of one family and three affected siblings in another family we re examined and followed. Results: The initial symptom of these patients was a rapid or slow central visual loss that occurred at an average age of 67.4 years. The major ophtha lmoscopic changes consisted of soft drusen and hemorrhagic or atrophic lesi ons in the macula, which were progressive and ultimately led to disciform s carring. They had no difficulty with night vision. All the patients had nor mal peripheral retina with intact peripheral fields. They maintained good a mbulatory vision and could walk unguided until late in life. These patients had a novel mutation in the tissue inhibitor of the metalloproteinases-3 ( TIMP3) gene. Conclusions: This is the first report of SFD from the East. Its clinical fe atures differ from those of SFD patients of the West, appearing closer to f eatures of age-related macular degeneration. These two unrelated Japanese f amilies with an identical mutation in the TIMP3 gene might be descendants o f a common ancestor who carried the mutant gene. (C) 1999 Japanese Ophthalm ological Society.