Medicine:Sorsby's fundus dystrophy
| Sorsby's fundus dystrophy | |
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| Other names | Sorsby pseudoinflammatory fundus dystrophy |
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| 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
Treatment
References
- ↑ 1.0 1.1 1.2 "SORSBY FUNDUS DYSTROPHY; SFD" (in en-us). https://omim.org/entry/136900.
- ↑ "Sorsby's fundus dystrophy" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59181.
- ↑ 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. PMID 18111349.
- ↑ "Night blindness in Sorsby's fundus dystrophy reversed by vitamin A". Nat Genet 11 (1): 27–32. September 1995. doi:10.1038/ng0995-27. PMID 7550309.
- ↑ "Visual dysfunction and structural correlates in Sorsby Fundus Dystrophy". Am J Ophthalmol 234: 274–284. August 2021. doi:10.1016/j.ajo.2021.07.032. PMID 34352251.
- ↑ "Choriocapillaris Flow Signal Impairment in Sorsby Fundus Dystrophy". Ophthalmologica. November 2021. 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.
External links
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