Sorsby's fundus dystrophy explained

Synonyms:Sorsby pseudoinflammatory 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]

Signs and symptoms

Patients typically become symptomatic in their 40s due to loss of central vision. 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.[8]

References

  1. Web site: SORSBY FUNDUS DYSTROPHY; SFD. omim.org. en-us. 2017-01-21.
  2. Web site: Sorsby's fundus dystrophy. www.orpha.net. en. 2017-01-21.
  3. Weisinger. H. S.. Pesudovs. K.. 2001-07-01. Sorsby's fundus dystrophy. Optometry (St. Louis, Mo.). 72. 7. 435–440. 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. 510908. 18111349. 10.1136/bjo.33.2.67.
  5. Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM . Night blindness in Sorsby's fundus dystrophy reversed by vitamin A . Nat Genet . 11 . 1 . 27–32 . September 1995 . 7550309 . 10.1038/ng0995-27 . 7779127 .
  6. Raming K, Gliem M, Issa PC, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K . Visual dysfunction and structural correlates in Sorsby Fundus Dystrophy . Am J Ophthalmol . 234. 274–284. August 2021 . 34352251 . 10.1016/j.ajo.2021.07.032 . 236933366 .
  7. Hess K, Raming K, Gliem M, Charbel Issa P, Herrmann P, Holz FG, Pfau M . Choriocapillaris Flow Signal Impairment in Sorsby Fundus Dystrophy . Ophthalmologica . November 2021 . 34844251 . 10.1159/000520931 . free . 2107.11361 .
  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. 8919688. 10.1101/gr.6.2.92. free.

External links

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