Sorsby’s fundus dystrophy

Common Name(s)

Sorsby’s fundus dystrophy, Sorsby's macular dystrophy

Sorsby’s macular dystrophy, also known as Sorsby’s fundus dystrophy, is a genetic eye disorder that causes vision loss that gets worse with time (progressive). This condition affects the macula, which is an area on the back of the eye (retina) that helps with vision used for detailed tasks such as reading, driving, and recognizing faces (sharp central vision). Early stages of the disorder begin around age 40, and are characterized by the buildup of two substances around the cells of the macula: a fatty yellow substance (lipofuscin) and a hard extra-cellular material (drusen). Together, these substances cause damage to the cells of the macula (macular dystrophy), which leads to blurry or distorted central vision. Individuals with this condition can also develop abnormal blood vessels that can leak and scar the macula, which is known as choroidal neovascularization (CNV). Sorsby’s macular dystrophy does not usually affect the vision on the side of the eyes (peripheral) or the ability to see at night.

Sorsby’s macular dystrophy is caused by a change (mutation) in a gene called TIMP3 and is inherited in an autosomal dominant manner, meaning a mutation in only one of the two copies of the gene a person has is enough to cause the condition. There is not a cure for this condition. However, if identified early enough, medications can be injected into the eye to slow the formation of harmful blood vessels. Good nutrition and protection from ultraviolet (UV) rays have also been shown to slow the progression of the disease. If you have been diagnosed with Sorsby's macular dystrophy, talk with your doctor about all current treatment options. Support groups can provide additional information and connect you with others affected by this condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sorsby’s fundus dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sorsby’s fundus dystrophy" returned 14 free, full-text research articles on human participants. First 3 results:

Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells.
 

Author(s): Kevin P Langton, Norman McKie, Brenda M Smith, Nicola J Brown, Michael D Barker

Journal: Hum. Mol. Genet.. 2005 Dec;14(23):3579-86.

 

Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of the retina, caused by mutations in exon 5 of the gene for tissue inhibitor of metalloproteinases-3 (TIMP-3). The mechanism by which these mutations give rise to the disease phenotype is unknown. In an ...

Last Updated: 28 Nov 2005

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Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up.
 

Author(s): S C Wong, K C S Fong, N Lee, K Gregory-Evans, C Y Gregory-Evans

Journal: Br J Ophthalmol. 2003 Jun;87(6):796-7.

 

Last Updated: 28 May 2003

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Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients.
 

Author(s): Christine E Arris, Debra J Bevitt, Jeseem Mohamed, Zheng Li, Kevin P Langton, Michael D Barker, Michael P Clarke, Norman McKie

Journal: Biochim. Biophys. Acta. 2003 May;1638(1):20-8.

 

Gingival fibroblast cell lines were derived from Sorsby's fundus dystrophy (SFD) patients carrying the S181C TIMP3 and the E139X TIMP3 mutations. These cell lines were grown in culture to study expression of the wild-type and mutant tissue inhibitor of metalloproteinase 3 (TIMP3) ...

Last Updated: 21 May 2003

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Reviews from the PubMed Database

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The terms "Sorsby’s fundus dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 1 May 2015

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