Sorsby's fundus dystrophy

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Sorsby's fundus dystrophy
Other namesSorsby pseudoinflammatory fundus dystrophy
Autosomal dominant - en.svg
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]

Contents

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]

References

  1. 1 2 3 "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. arXiv: 2107.11361 . 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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