| Sorsby's fundus dystrophy | |
|---|---|
| Other names | Sorsby pseudoinflammatory fundus dystrophy |
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| Sorsby's fundus dystrophy is inherited in an autosomal dominant manner. | |
Sorsby's fundus dystrophy (SFD) is a very rare genetic disorder characterized by the loss of central vision. [1] [2] [3] It was first described by Sorsby and Mason in 1949. [4]
Patients typically become symptomatic in their 40s due to loss of central vision. [1] However, tests of rod photoreceptor function (i.e., night vision tests) show dysfunction at an earlier age. One of the most sensitive visual function parameters for early SFD is a prolongation of rod-mediated dark adaptation. [5] [6] High-resolution structural imaging of the Bruch's membrane and of the underlying choriocapillaris – the capillary plexus nourishing the outer retina – also shows early alterations. [7]
The inheritance pattern is autosomal dominant. It is related to a mutation in the TIMP3 gene. [1] [8]
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