[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.

Clinical Features: 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.

Molecular Genetics: 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.