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]
Signs and symptoms
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]
^Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM (September 1995). "Night blindness in Sorsby's fundus dystrophy reversed by vitamin A". Nat Genet. 11 (1): 27–32. doi:10.1038/ng0995-27. PMID7550309. S2CID7779127.
^Raming K, Gliem M, Issa PC, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K (August 2021). "Visual dysfunction and structural correlates in Sorsby Fundus Dystrophy". Am J Ophthalmol. 234: 274–284. doi:10.1016/j.ajo.2021.07.032. PMID34352251. S2CID236933366.
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