Sorsby's fundus dystrophy


Sorsby's fundus dystrophy is a very rare genetic disorder characterized by the loss of central vision. It was first described by Sorsby and Mason in 1949.

Signs and symptoms

Patients typically begin lose their central vision in their 40s.

Genetics

The inheritance pattern is autosomal dominant. It is related to a mutation in the TIMP3 gene.

Diagnosis

Treatment