Sorsby's fundus dystrophy
| Sorsby's fundus dystrophy | |
|---|---|
| Other names | Sorsby pseudoinflammatory fundus dystrophy |
 | |
| 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]
Genetics
The inheritance pattern is autosomal dominant. It is related to a mutation in the TIMP3 gene.[1][8]
Diagnosis
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Treatment
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References
- ^ a b c "SORSBY FUNDUS DYSTROPHY; SFD". omim.org. Retrieved 2017-01-21.
- ^ "Sorsby's fundus dystrophy". www.orpha.net. Retrieved 2017-01-21.
- ^ Weisinger, H. S.; Pesudovs, K. (2001-07-01). "Sorsby's fundus dystrophy". Optometry (St. Louis, Mo.). 72 (7): 435–440. PMID 11486938.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.