Sorsby's fundus dystrophy

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]

Sorsby's fundus dystrophy
Other namesSorsby pseudoinflammatory fundus dystrophy
Sorsby's fundus dystrophy is inherited in an autosomal dominant manner.

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]

Genetics

The inheritance pattern is autosomal dominant. It is related to a mutation in the TIMP3 gene.[1][8]

Diagnosis

References
  1. "SORSBY FUNDUS DYSTROPHY; SFD". omim.org. Retrieved 2017-01-21.
  2. "Sorsby's fundus dystrophy". www.orpha.net. Retrieved 2017-01-21.
  3. Weisinger, H. S.; Pesudovs, K. (2001-07-01). "Sorsby's fundus dystrophy". Optometry (St. Louis, Mo.). 72 (7): 435–440. PMID 11486938.
  4. Sorsby, A.; Mason, M. E. J. (1949-02-01). "A fundus dystrophy with unusual features". The British Journal of Ophthalmology. 33 (2): 67–97. doi:10.1136/bjo.33.2.67. PMC 510908. PMID 18111349.
  5. 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. PMID 7550309. S2CID 7779127.
  6. 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. PMID 34352251. S2CID 236933366.
  7. Hess K, Raming K, Gliem M, Charbel Issa P, Herrmann P, Holz FG, Pfau M (November 2021). "Choriocapillaris Flow Signal Impairment in Sorsby Fundus Dystrophy". Ophthalmologica. doi:10.1159/000520931. PMID 34844251.
  8. Wijesuriya, S. D.; Evans, K.; Jay, M. R.; Davison, C.; Weber, B. H.; Bird, A. C.; Bhattacharya, S. S.; Gregory, C. Y. (1996-02-01). "Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes". Genome Research. 6 (2): 92–101. doi:10.1101/gr.6.2.92. PMID 8919688.
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