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 begin lose their central vision in their 40s.[1]

Genetics

The inheritance pattern is autosomal dominant. It is related to a mutation in the TIMP3 gene.[1][5]

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. 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.
Classification
External resources
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