[Sorsby's fundus dystrophy: a literature review].
BACKGROUND
Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular dystrophy first described in a 1949 study of five British families, and it has received attention because of its clinical similarity to age-related macular degeneration and recent identification of the pathogenic gene.


METHODS
To date, about twenty families with SFD have been reported from Europe, North America, South Africa, Australia, and Japan. A review of the literature found that the age of onset is usually during the fourth or fifth decade of life, the prominent ophthalmoscopic finding is hemorrhagic or atrophic lesion in the macula, and functional prognosis is usually unfavorable due to additional peripheral chorioretinal dystrophy, ultimately leading to poor ambulatory vision in the late decades of life.
Recent molecular studies have identified mutations in the tissue inhibitor of metalloproteinases-3 (TIMP 3) gene as the pathogenic gene defect.


CONCLUSIONS
TIMP 3 gene examinations not only allow accurate diagnosis but also lay the groundwork for future studies of potential therapeutic protocols.
Isashiki
Y
Y
Center for Chronic Viral Diseases, Kagoshima University Faculty of Medicine, Japan.
Ohba
N
N
D003317:Corneal Dystrophies, Hereditary / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology